T56M (p.Thr56Met) variant of PIEZO2 (Q9H5I5)
T56M (p.Thr56Met) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- rs957467830
- TOPMed rs957467830
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.51
- MetaSVM -0.12
- CADD 27.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available