E59D (p.Glu59Asp) variant of ABCC4 (O15439)
E59D (p.Glu59Asp) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- ExAC rs750090012
- TOPMed rs750090012
- gnomAD rs750090012
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 7.79
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 8.3e-05)