F123L (p.Phe123Leu) variant of LAMB3 (Laminin subunit beta-3)
F123L (p.Phe123Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
F123L (p.Phe123Leu) variant details
- p.Phe123Leu
- TOPMed rs1054996621
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available