A35V (p.Ala35Val) variant of PPM1D (Protein phosphatase 1D)
A35V (p.Ala35Val) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD 17-60600518-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.04
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available