T34M (p.Thr34Met) variant of PPM1D (Protein phosphatase 1D)
T34M (p.Thr34Met) 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 0.31 / 1. The record also includes population frequency data and structural context.
T34M (p.Thr34Met) variant details
- p.Thr34Met
- rs1217818543
- ClinGen CA400452576
- ClinVar RCV003887536
- gnomAD rs1217818543
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- AlphaMissense 0.09
- MetaLR 0.57
- MetaSVM 0.17
- CADD 17.90
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available