H94Y (p.His94Tyr) variant of USH1C (Harmonin)
H94Y (p.His94Tyr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H94Y (p.His94Tyr) variant details
- p.His94Tyr
- gnomAD rs1850959183
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available