L110Q (p.Leu110Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L110Q (p.Leu110Gln) 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 0.70 / 1. The record also includes population frequency data and structural context.
L110Q (p.Leu110Gln) variant details
- p.Leu110Gln
- gnomAD rs1392954300
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.57
- MetaSVM 0.19
- CADD 27.00
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available