L41Q (p.Leu41Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L41Q (p.Leu41Gln) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L41Q (p.Leu41Gln) variant details
- p.Leu41Gln
- TOPMed rs1357430753
- gnomAD rs1357430753
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.45
- MetaSVM -0.11
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available