S10G (p.Ser10Gly) variant of PPM1D (Protein phosphatase 1D)
S10G (p.Ser10Gly) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- gnomAD 17-60600442-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.31
- MetaLR 0.06
- MetaSVM -1.16
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available