R167Q (p.Arg167Gln) variant of ABCC4 (O15439)
R167Q (p.Arg167Gln) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R167Q (p.Arg167Gln) variant details
- p.Arg167Gln
- ExAC rs777892270
- TOPMed rs777892270
- gnomAD rs777892270
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)