S40L (p.Ser40Leu) variant of PPM1D (Protein phosphatase 1D)
S40L (p.Ser40Leu) in PPM1D (Protein phosphatase 1D) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 9.92
- PolyPhen-2 0.06
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available