P39L (p.Pro39Leu) variant of PPM1D (Protein phosphatase 1D)
P39L (p.Pro39Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- gnomAD 17-60600530-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.03
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available