A132V (p.Ala132Val) variant of HAVCR2 (Q8TDQ0)
A132V (p.Ala132Val) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- TOPMed rs1395748743
- gnomAD rs1395748743
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.05
- CADD 22.90
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available