G29G (p.Gly29Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G29G (p.Gly29Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G29G (p.Gly29Gly) variant details
- p.Gly29Gly
- rs78114078
- gnomAD 16-88716097-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0805
- CADD 0.04
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available