R176Q (p.Arg176Gln) variant of ABCC4 (O15439)
R176Q (p.Arg176Gln) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R176Q (p.Arg176Gln) variant details
- p.Arg176Gln
- ExAC rs773871274
- TOPMed rs773871274
- gnomAD rs773871274
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 19.30
- PolyPhen-2 0.78
- SIFT 0.13
- Most common in the East Asian population (allele frequency 7.6e-05)