T2127M (p.Thr2127Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T2127M (p.Thr2127Met) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dehydrated hereditary stomatocytosis with or without pseudohyperka. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T2127M (p.Thr2127Met) variant details
- p.Thr2127Met
- rs587776991
- ClinGen CA211290
- ClinVar RCV000049236
- ClinVar RCV001781379
- Pathogenic/Likely pathogenic
- not provided; Dehydrated hereditary stomatocytosis with or without pseudohyperka
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.68
- MetaSVM 0.57
- CADD 28.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dehydrated hereditary stomatocytosis with or witho)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. (PMID 16898969)
- Cited in: Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (PMID 23479567)