L4M (p.Leu4Met) variant of PPM1D (Protein phosphatase 1D)
L4M (p.Leu4Met) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 17-60600424-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 24.40
- PolyPhen-2 0.60
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available