K799R (p.Lys799Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
K799R (p.Lys799Arg) 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 Auditory neuropathy. The record also includes structural context.
K799R (p.Lys799Arg) variant details
- p.Lys799Arg
- rs2540511791
- ClinGen CA385512982
- ClinVar RCV003484492
- Likely pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available