D42V (p.Asp42Val) variant of ABCC4 (O15439)
D42V (p.Asp42Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D42V (p.Asp42Val) variant details
- p.Asp42Val
- ExAC rs748429503
- gnomAD rs748429503
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 26.70
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)