A103V (p.Ala103Val) variant of HAVCR2 (Q8TDQ0)
A103V (p.Ala103Val) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- TOPMed rs971874704
- Missense
- Variant Prioritization Score for Impact Estimate 0.0797
- REVEL 0.10
- CADD 1.19
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)