R89H (p.Arg89His) variant of HAVCR2 (Q8TDQ0)
R89H (p.Arg89His) 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 0.06 / 1. The record also includes population frequency data.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs759158630
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57152
- ExAC rs759158630
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- REVEL 0.04
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)