V57A (p.Val57Ala) variant of USH2A (Usherin)
V57A (p.Val57Ala) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- Ensembl rs992877891
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- CADD 9.84
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available