V28A (p.Val28Ala) variant of PPM1D (Protein phosphatase 1D)
V28A (p.Val28Ala) in PPM1D (Protein phosphatase 1D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- rs2544420665
- ClinGen CA400452394
- ClinVar RCV002291424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available