V168A (p.Val168Ala) variant of ABCC4 (O15439)
V168A (p.Val168Ala) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
V168A (p.Val168Ala) variant details
- p.Val168Ala
- ExAC rs758582075
- TOPMed rs758582075
- gnomAD rs758582075
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)