M30T (p.Met30Thr) variant of KIF1A (Kinesin-like protein KIF1A)
M30T (p.Met30Thr) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 30. The record also includes published literature.
M30T (p.Met30Thr) variant details
- p.Met30Thr
- UniProt VAR 083688
- Uncertain significance
- Hereditary spastic paraplegia 30
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30)
- EBI: Variant of uncertain significance (in SPG30A)
- UniProt: Uncertain significance (in SPG30A)
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID 25585697)