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Table 3 Functional prediction of p.Val205Met variant on CDH3 gene. Prediction and score from 12 different predictors

From: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

Nucleotide variation: NM_001793.5:c.613G > A

Amino-acid variation: p.Val205Met

Mutation type: nonsynonymous SNV

Exon: 6

In silico predictors

Prediction (score)

SIFT

Deleterious (0)

Polyphen

Deleterious (1)

Mutation Taster

Deleterious (1)

Align GVGD

Tolerated (Class 0)

PROVEAN

Deleterious (−2.81)

CADD

Deleterious (22.8)

MCAP

Deleterious (0.086)

LRT

Tolerated (0.244)

MutationAssessor

Deleterious (3415)

MetaLR

Deleterious (0.58)

fathmm-MKL

Deleterious (0.994)

MetaSVM

Deleterious (0.301)