V28F (p.Val28Phe) variant of PPM1D (Protein phosphatase 1D)
V28F (p.Val28Phe) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V28F (p.Val28Phe) variant details
- p.Val28Phe
- gnomAD 17-60600496-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.19
- CADD 26.30
- PolyPhen-2 0.67
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available