Y27H (p.Tyr27His) variant of USH1C (Harmonin)
Y27H (p.Tyr27His) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- gnomAD rs1222503025
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.30
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.311