R20T (p.Arg20Thr) variant of HAVCR2 (Q8TDQ0)
R20T (p.Arg20Thr) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
R20T (p.Arg20Thr) variant details
- p.Arg20Thr
- ExAC rs746710199
- TOPMed rs746710199
- gnomAD rs746710199
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.56
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)