M210I (p.Met210Ile) variant of KIF1A (Kinesin-like protein KIF1A)
M210I (p.Met210Ile) 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 Hereditary spastic paraplegia 30.
M210I (p.Met210Ile) variant details
- p.Met210Ile
- rs2538309429
- ClinGen CA351304903
- ClinVar RCV003152912
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Likely pathogenic (in KAND)
- UniProt: Likely pathogenic (in KAND)