A23D (p.Ala23Asp) variant of USH2A (Usherin)
A23D (p.Ala23Asp) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- TOPMed rs1161919436
- gnomAD rs1161919436
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- CADD 18.50
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available