R97S (p.Arg97Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R97S (p.Arg97Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
R97S (p.Arg97Ser) variant details
- p.Arg97Ser
- ExAC rs767828494
- TOPMed rs767828494
- gnomAD rs767828494
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.11
- MetaSVM -1.03
- CADD 16.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available