P31S (p.Pro31Ser) variant of PPM1D (Protein phosphatase 1D)
P31S (p.Pro31Ser) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- ExAC rs757366012
- TOPMed rs757366012
- gnomAD rs757366012
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available