A2T (p.Ala2Thr) variant of ABCC1 (P33527)
A2T (p.Ala2Thr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 16-15949755-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available