R97L (p.Arg97Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R97L (p.Arg97Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R97L (p.Arg97Leu) variant details
- p.Arg97Leu
- 1000Genomes rs575964090
- TOPMed rs575964090
- gnomAD rs575964090
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.03
- CADD 15.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available