K19N (p.Lys19Asn) variant of PPM1D (Protein phosphatase 1D)
K19N (p.Lys19Asn) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K19N (p.Lys19Asn) variant details
- p.Lys19Asn
- gnomAD 17-60600471-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.12
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available