P39A (p.Pro39Ala) variant of PPM1D (Protein phosphatase 1D)
P39A (p.Pro39Ala) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD 17-60600529-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.00
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available