L112P (p.Leu112Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L112P (p.Leu112Pro) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L112P (p.Leu112Pro) variant details
- p.Leu112Pro
- rs1201502287
- ClinGen CA397124005
- ClinVar RCV001508796
- TOPMed rs1201502287
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.37
- MetaSVM -0.48
- CADD 22.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available