T88A (p.Thr88Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
T88A (p.Thr88Ala) 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 Peripheral neuropathy. The record also includes structural context.
T88A (p.Thr88Ala) variant details
- p.Thr88Ala
- rs2540493207
- ClinGen CA385493489
- ClinVar RCV002286509
- Likely pathogenic
- Peripheral neuropathy
- Missense
- ClinVar: Likely pathogenic (Peripheral neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available