L64V (p.Leu64Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L64V (p.Leu64Val) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L64V (p.Leu64Val) variant details
- p.Leu64Val
- ExAC rs754121849
- TOPMed rs754121849
- gnomAD rs754121849
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.95
- CADD 18.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available