R58G (p.Arg58Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R58G (p.Arg58Gly) 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 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ExAC rs778920824
- TOPMed rs778920824
- gnomAD rs778920824
- Uncertain significance
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.21
- MetaSVM -0.75
- CADD 23.10
- ClinVar: Uncertain significance (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available