V29E (p.Val29Glu) variant of PPM1D (Protein phosphatase 1D)
V29E (p.Val29Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V29E (p.Val29Glu) variant details
- p.Val29Glu
- gnomAD 17-60600500-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.17
- CADD 28.00
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available