G56V (p.Gly56Val) variant of HAVCR2 (Q8TDQ0)
G56V (p.Gly56Val) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- cosmic curated COSV57154
- ExAC rs745654124
- gnomAD rs745654124
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.22
- AlphaMissense 0.28
- MetaLR 0.02
- MetaSVM -0.98
- CADD 21.50
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 0.00013)