A48S (p.Ala48Ser) variant of ABCC1 (P33527)
A48S (p.Ala48Ser) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- gnomAD 16-16007909-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.03
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available