G7C (p.Gly7Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G7C (p.Gly7Cys) 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 0.19 / 1. The record also includes population frequency data and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD rs1226315961
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.11
- MetaSVM -0.96
- CADD 10.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available