S14L (p.Ser14Leu) variant of ABCC2 (Q92887)
S14L (p.Ser14Leu) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- gnomAD 10-99784615-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 26.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available