A26V (p.Ala26Val) variant of USH2A (Usherin)
A26V (p.Ala26Val) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- cosmic curated COSV56392
- ExAC rs764409229
- TOPMed rs764409229
- gnomAD rs764409229
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 1.97
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available