A9T (p.Ala9Thr) variant of ABCC1 (P33527)
A9T (p.Ala9Thr) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 16-15949776-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.03
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available