K19E (p.Lys19Glu) variant of PPM1D (Protein phosphatase 1D)
K19E (p.Lys19Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- ExAC rs759976092
- gnomAD rs759976092
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available