R37Q (p.Arg37Gln) variant of ABCC4 (O15439)
R37Q (p.Arg37Gln) 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 0.65 / 1. The record also includes population frequency data.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs767254775
- NCI-TCGA Cosmic COSV6531
- cosmic curated COSV65311
- ExAC rs767254775
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00083)