R1358P (p.Arg1358Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R1358P (p.Arg1358Pro) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R1358P (p.Arg1358Pro) variant details
- p.Arg1358Pro
- rs587776990
- ClinGen CA211289
- ClinVar RCV000049234
- UniProt VAR 069826
- Pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. (PMID 23695678)
- Cited in: Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. (PMID 22529292)