R49Q (p.Arg49Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R49Q (p.Arg49Gln) 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 provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs779186692
- ClinGen CA286454524
- ClinVar RCV001812971
- ClinVar RCV002541774
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.97
- CADD 7.33
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)