R89G (p.Arg89Gly) variant of HAVCR2 (Q8TDQ0)
R89G (p.Arg89Gly) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
R89G (p.Arg89Gly) variant details
- p.Arg89Gly
- 1000Genomes rs372946929
- ExAC rs372946929
- TOPMed rs372946929
- gnomAD rs372946929
- Missense
- Variant Prioritization Score for Impact Estimate 0.0608
- REVEL 0.03
- CADD 5.75
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.00017)