E32V (p.Glu32Val) variant of USH2A (Usherin)
E32V (p.Glu32Val) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
E32V (p.Glu32Val) variant details
- p.Glu32Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- REVEL 0.03
- CADD 7.48
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available