A2003D (p.Ala2003Asp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A2003D (p.Ala2003Asp) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.73 / 1. The record also includes published literature and structural context.
A2003D (p.Ala2003Asp) variant details
- p.Ala2003Asp
- rs1430652756
- ClinGen CA397086179
- ClinVar RCV003406082
- ClinVar RCV003444070
- Likely pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.69
- MetaSVM 0.25
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Likely pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Structural context available
- Cited in: Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (PMID 23479567)
- Cited in: Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. (PMID 22529292)