P305L (p.Pro305Leu) variant of KIF1A (Kinesin-like protein KIF1A)
P305L (p.Pro305Leu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 30; KIF1A related neurological disorder; Neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and published literature.
P305L (p.Pro305Leu) variant details
- p.Pro305Leu
- UniProt VAR 086879
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; KIF1A related neurological disorder; Neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; KIF1A related neurological dis)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Population evidence available
- Cited in: Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case… (PMID 31796088)
- Cited in: Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). (PMID 32652677)