R89C (p.Arg89Cys) variant of HAVCR2 (Q8TDQ0)
R89C (p.Arg89Cys) in HAVCR2 (Q8TDQ0) 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 0.15 / 1. The record also includes population frequency data.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs372946929
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57154
- 1000Genomes rs372946929
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 14.90
- PolyPhen-2 0.55
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)