Y24H (p.Tyr24His) variant of USH2A (Usherin)
Y24H (p.Tyr24His) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y24H (p.Tyr24His) variant details
- p.Tyr24His
- TOPMed rs2039691730
- gnomAD rs2039691730
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.10
- CADD 15.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available