A2S (p.Ala2Ser) variant of ABCC1 (P33527)
A2S (p.Ala2Ser) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 16-15949755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available