S58L (p.Ser58Leu) variant of KIF1A (Kinesin-like protein KIF1A)
S58L (p.Ser58Leu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spastic paraplegia 30A, autosomal dominant; Inborn genetic diseases; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature.
S58L (p.Ser58Leu) variant details
- p.Ser58Leu
- rs672601362
- ClinGen CA212612
- cosmic curated COSV10024
- ClinVar RCV000149474
- Pathogenic
- Spastic paraplegia 30A, autosomal dominant; Inborn genetic diseases; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.94
- MetaLR 0.64
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Spastic paraplegia 30A, autosomal dominant; Inborn genetic disea)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)