R26L (p.Arg26Leu) variant of PIEZO2 (Q9H5I5)
R26L (p.Arg26Leu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- TOPMed rs1338267898
- gnomAD rs1338267898
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.38
- CADD 25.30
- Population evidence available
- Structural context available