R26H (p.Arg26His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R26H (p.Arg26His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R26H (p.Arg26His) variant details
- p.Arg26His
- rs780945315
- ClinGen CA286454684
- ClinVar RCV003131948
- ClinVar RCV005455745
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.66
- MetaSVM 0.41
- CADD 24.60
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)