K48E (p.Lys48Glu) variant of KIF1A (Kinesin-like protein KIF1A)
K48E (p.Lys48Glu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KIF1A-related disorder.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- rs2538462644
- ClinGen CA351311767
- ClinVar RCV004531654
- Likely pathogenic
- KIF1A-related disorder
- Missense
- ClinVar: Likely pathogenic (KIF1A-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic