R109K (p.Arg109Lys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R109K (p.Arg109Lys) 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 0.45 / 1. The record also includes population frequency data and structural context.
R109K (p.Arg109Lys) variant details
- p.Arg109Lys
- TOPMed rs1011912291
- gnomAD rs1011912291
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.46
- MetaSVM -0.18
- CADD 33.00
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available