R111W (p.Arg111Trp) variant of HAVCR2 (Q8TDQ0)
R111W (p.Arg111Trp) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
R111W (p.Arg111Trp) variant details
- p.Arg111Trp
- cosmic curated COSV10032
- ESP rs145478313
- ExAC rs145478313
- TOPMed rs145478313
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.56
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)