A23V (p.Ala23Val) variant of USH2A (Usherin)
A23V (p.Ala23Val) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- TOPMed rs1161919436
- gnomAD rs1161919436
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.05
- CADD 10.10
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available