R808Q (p.Arg808Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R808Q (p.Arg808Gln) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R808Q (p.Arg808Gln) variant details
- p.Arg808Gln
- rs202103485
- ClinGen CA082797
- ClinVar RCV000049238
- ClinVar RCV000756475
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. (PMID 11001917)
- Cited in: Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (PMID 23479567)