Q26K (p.Gln26Lys) variant of PPM1D (Protein phosphatase 1D)
Q26K (p.Gln26Lys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- gnomAD 17-60600490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.10
- CADD 23.70
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available