T88I (p.Thr88Ile) variant of KIF5A (Kinesin heavy chain isoform 5A)
T88I (p.Thr88Ile) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
T88I (p.Thr88Ile) variant details
- p.Thr88Ile
- rs2540493214
- ClinGen CA385493504
- ClinVar RCV003318822
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available