G78S (p.Gly78Ser) variant of KIF1A (Kinesin-like protein KIF1A)
G78S (p.Gly78Ser) 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 Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- UniProt VAR 083691
- Pathogenic/Likely pathogenic
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.89
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- 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)