R109G (p.Arg109Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R109G (p.Arg109Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R109G (p.Arg109Gly) variant details
- p.Arg109Gly
- gnomAD rs1456516604
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM -0.09
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available