A2P (p.Ala2Pro) variant of PPM1D (Protein phosphatase 1D)
A2P (p.Ala2Pro) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 17-60600418-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.85
- CADD 25.30
- PolyPhen-2 0.74
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available