I27M (p.Ile27Met) variant of PPM1D (Protein phosphatase 1D)
I27M (p.Ile27Met) in PPM1D (Protein phosphatase 1D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs974206177
- ClinGen CA292225221
- ClinVar RCV003544672
- TOPMed rs974206177
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.59
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available