V8M (p.Val8Met) variant of ABCC4 (O15439)
V8M (p.Val8Met) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
V8M (p.Val8Met) variant details
- p.Val8Met
- ExAC rs756450259
- gnomAD rs756450259
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 15.00
- PolyPhen-2 0.10
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)