F12S (p.Phe12Ser) variant of PPM1D (Protein phosphatase 1D)
F12S (p.Phe12Ser) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- gnomAD 17-60600449-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.94
- CADD 24.00
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available