G5C (p.Gly5Cys) variant of ABCC1 (P33527)
G5C (p.Gly5Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 16-15949764-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available