D14Y (p.Asp14Tyr) variant of PPM1D (Protein phosphatase 1D)
D14Y (p.Asp14Tyr) 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.
D14Y (p.Asp14Tyr) variant details
- p.Asp14Tyr
- gnomAD 17-60600454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.36
- MetaLR 0.08
- MetaSVM -1.14
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available