G5D (p.Gly5Asp) variant of ABCC1 (P33527)
G5D (p.Gly5Asp) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD 16-15949765-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available