F12L (p.Phe12Leu) variant of PPM1D (Protein phosphatase 1D)
F12L (p.Phe12Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- gnomAD 17-60600450-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.04
- CADD 24.30
- PolyPhen-2 0.18
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available