L55F (p.Leu55Phe) variant of ABCC1 (P33527)
L55F (p.Leu55Phe) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- gnomAD 16-16007930-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available