H4R (p.His4Arg) variant of HAVCR2 (Q8TDQ0)
H4R (p.His4Arg) 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.
H4R (p.His4Arg) variant details
- p.His4Arg
- ExAC rs767716690
- gnomAD rs767716690
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.12
- CADD 8.12
- PolyPhen-2 0.26
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)