R97H (p.Arg97His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R97H (p.Arg97His) 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. 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.
R97H (p.Arg97His) variant details
- p.Arg97His
- 1000Genomes rs575964090
- TOPMed rs575964090
- gnomAD rs575964090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.06
- CADD 15.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available