G16C (p.Gly16Cys) variant of PPM1D (Protein phosphatase 1D)
G16C (p.Gly16Cys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 17-60600460-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.53
- MetaLR 0.13
- MetaSVM -0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available