S6L (p.Ser6Leu) variant of PPM1D (Protein phosphatase 1D)
S6L (p.Ser6Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- gnomAD 17-60600431-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.10
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available