V20A (p.Val20Ala) variant of ABCC1 (P33527)
V20A (p.Val20Ala) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 16-16007826-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.08
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available