R167G (p.Arg167Gly) variant of ABCC4 (O15439)
R167G (p.Arg167Gly) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
R167G (p.Arg167Gly) variant details
- p.Arg167Gly
- ExAC rs529536678
- TOPMed rs529536678
- gnomAD rs529536678
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 16.50
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)