S54F (p.Ser54Phe) variant of ABCC2 (Q92887)
S54F (p.Ser54Phe) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- gnomAD 10-99784735-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 19.20
- PolyPhen-2 0.37
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available