G7R (p.Gly7Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G7R (p.Gly7Arg) 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 Lymphatic malformation 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs1226315961
- ClinGen CA397064814
- ClinVar RCV001331712
- gnomAD rs1226315961
- Uncertain significance
- Lymphatic malformation 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.27
- MetaSVM -0.83
- CADD 22.60
- ClinVar: Uncertain significance (Lymphatic malformation 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available