V51I (p.Val51Ile) variant of HAVCR2 (Q8TDQ0)
V51I (p.Val51Ile) 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 0.23 / 1. The record also includes population frequency data.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs368534648
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57154
- ExAC rs368534648
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.05
- CADD 9.59
- PolyPhen-2 0.03
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)