E7V (p.Glu7Val) variant of ABCC4 (O15439)
E7V (p.Glu7Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- ExAC rs754056946
- TOPMed rs754056946
- gnomAD rs754056946
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 24.10
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)