P47L (p.Pro47Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P47L (p.Pro47Leu) 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 0.53 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- ExAC rs772183217
- TOPMed rs772183217
- gnomAD rs772183217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.52
- MetaSVM 0.06
- CADD 24.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available