A2E (p.Ala2Glu) variant of ABCC1 (P33527)
A2E (p.Ala2Glu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 16-15949756-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- CADD 21.00
- PolyPhen-2 0.10
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available