K19R (p.Lys19Arg) variant of PPM1D (Protein phosphatase 1D)
K19R (p.Lys19Arg) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- gnomAD 17-60600470-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.13
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available