A2V (p.Ala2Val) variant of PPM1D (Protein phosphatase 1D)
A2V (p.Ala2Val) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 17-60600419-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.83
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available