C58R (p.Cys58Arg) variant of HAVCR2 (Q8TDQ0)
C58R (p.Cys58Arg) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
C58R (p.Cys58Arg) variant details
- p.Cys58Arg
- TOPMed rs201750016
- gnomAD rs201750016
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.46
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)