R69K (p.Arg69Lys) variant of HAVCR2 (Q8TDQ0)
R69K (p.Arg69Lys) 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 0.08 / 1. The record also includes population frequency data.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57151
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- REVEL 0.06
- CADD 0.76
- PolyPhen-2 0.18
- SIFT 0.83
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)