R37W (p.Arg37Trp) variant of ABCC4 (O15439)
R37W (p.Arg37Trp) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- cosmic curated COSV65313
- ESP rs371717293
- ExAC rs371717293
- TOPMed rs371717293
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)