L48F (p.Leu48Phe) variant of ABCC2 (Q92887)
L48F (p.Leu48Phe) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- gnomAD 10-99784716-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available