D14G (p.Asp14Gly) variant of PPM1D (Protein phosphatase 1D)
D14G (p.Asp14Gly) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D14G (p.Asp14Gly) variant details
- p.Asp14Gly
- gnomAD 17-60600455-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.30
- MetaLR 0.07
- MetaSVM -1.15
- CADD 30.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available