V50I (p.Val50Ile) variant of VSIR (Q9H7M9)
V50I (p.Val50Ile) in VSIR (Q9H7M9) 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 0.31 / 1. The record also includes population frequency data and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- rs747668966
- NCI-TCGA Cosmic COSV9982
- ExAC rs747668966
- gnomAD rs747668966
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available