F54L (p.Phe54Leu) variant of ABCC1 (P33527)
F54L (p.Phe54Leu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- gnomAD 16-16007929-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available