A2S (p.Ala2Ser) variant of PPM1D (Protein phosphatase 1D)
A2S (p.Ala2Ser) 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.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 17-60600418-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -0.98
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available