E41V (p.Glu41Val) variant of USH2A (Usherin)
E41V (p.Glu41Val) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E41V (p.Glu41Val) variant details
- p.Glu41Val
- rs1211535189
- ClinGen CA344904957
- ClinVar RCV002801521
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.35
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.01
- SIFT 0.11
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available