P51A (p.Pro51Ala) variant of ABCC1 (P33527)
P51A (p.Pro51Ala) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- gnomAD 16-16007918-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available