R97C (p.Arg97Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R97C (p.Arg97Cys) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R97C (p.Arg97Cys) variant details
- p.Arg97Cys
- ExAC rs767828494
- TOPMed rs767828494
- gnomAD rs767828494
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.11
- MetaSVM -0.96
- CADD 21.60
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available