R20S (p.Arg20Ser) variant of HAVCR2 (Q8TDQ0)
R20S (p.Arg20Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- ExAC rs779965942
- gnomAD rs779965942
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.05
- CADD 7.03
- PolyPhen-2 0.12
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)