D14V (p.Asp14Val) variant of PPM1D (Protein phosphatase 1D)
D14V (p.Asp14Val) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D14V (p.Asp14Val) variant details
- p.Asp14Val
- gnomAD 17-60600455-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.31
- MetaLR 0.07
- MetaSVM -1.14
- CADD 29.60
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available