G46R (p.Gly46Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G46R (p.Gly46Arg) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- TOPMed rs866838504
- gnomAD rs866838504
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.58
- MetaLR 0.37
- MetaSVM -0.54
- CADD 22.90
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available