R52H (p.Arg52His) variant of ABCC4 (O15439)
R52H (p.Arg52His) in ABCC4 (O15439) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs142182014
- cosmic curated COSV65313
- ESP rs142182014
- ExAC rs142182014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)