P57H (p.Pro57His) variant of USH1C (Harmonin)
P57H (p.Pro57His) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P57H (p.Pro57His) variant details
- p.Pro57His
- gnomAD rs1341678124
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.39
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0127