R26L (p.Arg26Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R26L (p.Arg26Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- TOPMed rs780945315
- gnomAD rs780945315
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.66
- MetaSVM 0.41
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available