L112V (p.Leu112Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L112V (p.Leu112Val) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
L112V (p.Leu112Val) variant details
- p.Leu112Val
- TOPMed rs938373330
- gnomAD rs938373330
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.21
- MetaSVM -0.82
- CADD 20.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available