L173P (p.Leu173Pro) variant of KIF1A (Kinesin-like protein KIF1A)
L173P (p.Leu173Pro) 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 Inborn genetic diseases; Hereditary spastic paraplegia 30. The record also includes published literature.
L173P (p.Leu173Pro) variant details
- p.Leu173Pro
- UniProt VAR 083695
- Likely pathogenic
- Inborn genetic diseases; Hereditary spastic paraplegia 30
- Missense
- ClinVar: Likely pathogenic (Inborn genetic diseases; Hereditary spastic paraplegia 30)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (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)