R58C (p.Arg58Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R58C (p.Arg58Cys) 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 Inborn genetic diseases; not provided; Lymphatic malformation 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs778920824
- ClinGen CA8233330
- ClinVar RCV003546206
- ClinVar RCV004369091
- Conflicting interpretations
- Inborn genetic diseases; not provided; Lymphatic malformation 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.33
- ESM-1b 0.61
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.75
- CADD 22.60
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Lymphatic malformation 6)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)