A330D (p.Ala330Asp) variant of KIF1A (Kinesin-like protein KIF1A)
A330D (p.Ala330Asp) 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 not provided.
A330D (p.Ala330Asp) variant details
- p.Ala330Asp
- rs2537957670
- ClinGen CA351296847
- ClinVar RCV003887598
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic