S274L (p.Ser274Leu) variant of KIF1A (Kinesin-like protein KIF1A)
S274L (p.Ser274Leu) 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 0.88 / 1. The record also includes published literature.
S274L (p.Ser274Leu) variant details
- p.Ser274Leu
- rs797045655
- ClinGen CA209610
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57486
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.91
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)