L108Q (p.Leu108Gln) variant of LAMB3 (Laminin subunit beta-3)
L108Q (p.Leu108Gln) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L108Q (p.Leu108Gln) variant details
- p.Leu108Gln
- TOPMed rs1464871076
- gnomAD rs1464871076
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.93
- AlphaMissense 0.79
- MetaLR 0.75
- MetaSVM 0.69
- CADD 26.40
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available