R103Q (p.Arg103Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R103Q (p.Arg103Gln) 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 0.15 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs951851993
- ClinGen CA286442080
- ClinVar RCV003488242
- TOPMed rs951851993
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.97
- CADD 7.49
- 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