D14E (p.Asp14Glu) variant of PPM1D (Protein phosphatase 1D)
D14E (p.Asp14Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- Ensembl rs1199709240
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.20
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available