D73N (p.Asp73Asn) variant of KIF5A (Kinesin heavy chain isoform 5A)
D73N (p.Asp73Asn) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 10. The record also includes structural context.
D73N (p.Asp73Asn) variant details
- p.Asp73Asn
- rs2540492992
- ClinGen CA385492999
- ClinVar RCV002289201
- Likely pathogenic
- Hereditary spastic paraplegia 10
- Missense
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 10)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available