R82G (p.Arg82Gly) variant of ABCC4 (O15439)
R82G (p.Arg82Gly) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R82G (p.Arg82Gly) variant details
- p.Arg82Gly
- 1000Genomes rs548137580
- TOPMed rs548137580
- gnomAD rs548137580
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:PEL population (allele frequency 0.0059)