E30V (p.Glu30Val) variant of PPM1D (Protein phosphatase 1D)
E30V (p.Glu30Val) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- gnomAD 17-60600503-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.47
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.77
- CADD 29.40
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available