V16I (p.Val16Ile) variant of USH2A (Usherin)
V16I (p.Val16Ile) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- rs750448122
- ClinGen CA344905136
- ClinVar RCV002308636
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.78
- SIFT 0.03
- MutPred 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available