R2456H (p.Arg2456His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R2456H (p.Arg2456His) 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 Non-immune hydrops fetalis; Dehydrated hereditary stomatocytosis with or without. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R2456H (p.Arg2456His) variant details
- p.Arg2456His
- rs587776988
- ClinGen CA211287
- ClinVar RCV000049232
- ClinVar RCV001388579
- Pathogenic
- Non-immune hydrops fetalis; Dehydrated hereditary stomatocytosis with or without
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.80
- MetaSVM 0.81
- CADD 25.20
- ClinVar: Pathogenic (Non-immune hydrops fetalis; Dehydrated hereditary stomatocytosis)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. (PMID 21944700)
- Cited in: Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. (PMID 22529292)