L66V (p.Leu66Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L66V (p.Leu66Val) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L66V (p.Leu66Val) variant details
- p.Leu66Val
- TOPMed rs1395256792
- gnomAD rs1395256792
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.97
- CADD 14.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available