R176G (p.Arg176Gly) variant of ABCC4 (O15439)
R176G (p.Arg176Gly) in ABCC4 (O15439) 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.
R176G (p.Arg176Gly) variant details
- p.Arg176Gly
- ESP rs374877163
- ExAC rs374877163
- TOPMed rs374877163
- gnomAD rs374877163
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)