A2E (p.Ala2Glu) variant of PPM1D (Protein phosphatase 1D)
A2E (p.Ala2Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 17-60600419-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.04
- CADD 19.80
- PolyPhen-2 0.05
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available