R109S (p.Arg109Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R109S (p.Arg109Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R109S (p.Arg109Ser) variant details
- p.Arg109Ser
- rs918189223
- ClinGen CA286441416
- ClinVar RCV004503584
- gnomAD rs918189223
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.36
- MetaSVM -0.60
- CADD 23.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)