G5A (p.Gly5Ala) variant of ABCC1 (P33527)
G5A (p.Gly5Ala) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD 16-15949761-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available