A2T (p.Ala2Thr) variant of PPM1D (Protein phosphatase 1D)
A2T (p.Ala2Thr) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 17-60600418-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.97
- CADD 25.00
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available