S69L (p.Ser69Leu) variant of KIF1A (Kinesin-like protein KIF1A)
S69L (p.Ser69Leu) 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; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- rs786200949
- ClinGen CA351310990
- ClinVar RCV001391592
- UniProt VAR 077467
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.26
- MetaLR 0.70
- MetaSVM 0.54
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Cited in: Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID 25585697)
- Cited in: Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (PMID 26410750)