G29R (p.Gly29Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G29R (p.Gly29Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- gnomAD rs987409464
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.28
- MetaSVM -0.47
- CADD 18.50
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available