From: Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Splice site prediction for splice donor variant c.804G > C | |||
---|---|---|---|
Program | wt score | c.804G > C score | threshold value |
MaxEntScan | 8.73 | −4.91 | 3 |
HSF 3.0 | 77.1 | 66.08 | 65 |
NNSplice 0.9 | 0.87 | splice site not recognized | 0.4 |