Y5C (p.Tyr5Cys) variant of PPM1D (Protein phosphatase 1D)
Y5C (p.Tyr5Cys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- gnomAD 17-60600428-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.15
- CADD 29.60
- PolyPhen-2 0.89
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available