R120Q (p.Arg120Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R120Q (p.Arg120Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R120Q (p.Arg120Gln) variant details
- p.Arg120Gln
- rs1180628646
- ClinGen CA397123953
- ClinVar RCV003488216
- TOPMed rs1180628646
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.45
- ESM-1b 0.88
- AlphaMissense 0.13
- MetaLR 0.23
- MetaSVM -0.69
- CADD 22.50
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available