V140A (p.Val140Ala) variant of ABCC4 (O15439)
V140A (p.Val140Ala) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
V140A (p.Val140Ala) variant details
- p.Val140Ala
- gnomAD rs1216684109
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 8.69
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 6.6e-05)