G92R (p.Gly92Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G92R (p.Gly92Arg) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
G92R (p.Gly92Arg) variant details
- p.Gly92Arg
- TOPMed rs1905732803
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.19
- MetaSVM -0.84
- CADD 22.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available