G8A (p.Gly8Ala) variant of PPM1D (Protein phosphatase 1D)
G8A (p.Gly8Ala) 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 and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD rs1415006641
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.10
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.71
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available