R116C (p.Arg116Cys) variant of VSIR (Q9H7M9)
R116C (p.Arg116Cys) 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 0.50 / 1. The record also includes population frequency data and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- rs779919795
- NCI-TCGA Cosmic COSV5648
- ExAC rs779919795
- TOPMed rs779919795
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.31
- CADD 21.20
- PolyPhen-2 0.76
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available