I51V (p.Ile51Val) variant of USH2A (Usherin)
I51V (p.Ile51Val) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- rs886043442
- ClinGen CA10605529
- ClinVar RCV000350826
- TOPMed rs886043442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0796
- REVEL 0.01
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available