D15A (p.Asp15Ala) variant of ABCC4 (O15439)
D15A (p.Asp15Ala) 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.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- ExAC rs764795054
- TOPMed rs764795054
- gnomAD rs764795054
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the African/African-American population (allele frequency 3.2e-05)