S40W (p.Ser40Trp) variant of PPM1D (Protein phosphatase 1D)
S40W (p.Ser40Trp) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S40W (p.Ser40Trp) variant details
- p.Ser40Trp
- gnomAD 17-60600533-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.01
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available