G57R (p.Gly57Arg) variant of ABCC4 (O15439)
G57R (p.Gly57Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- ExAC rs755618240
- gnomAD rs755618240
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)