V52M (p.Val52Met) variant of USH2A (Usherin)
V52M (p.Val52Met) 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 0.17 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs749099959
- NCI-TCGA Cosmic COSV5632
- cosmic curated COSV56322
- ExAC rs749099959
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.83
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available