R52C (p.Arg52Cys) variant of ABCC4 (O15439)
R52C (p.Arg52Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- cosmic curated COSV65314
- 1000Genomes rs577370049
- ExAC rs577370049
- TOPMed rs577370049
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:CDX population (allele frequency 0.0057)