G5V (p.Gly5Val) variant of ABCC1 (P33527)
G5V (p.Gly5Val) in ABCC1 (P33527) 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, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 16-15949765-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available