Y20C (p.Tyr20Cys) variant of PPM1D (Protein phosphatase 1D)
Y20C (p.Tyr20Cys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- gnomAD 17-60600473-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.55
- MetaLR 0.07
- MetaSVM -1.13
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available