G102S (p.Gly102Ser) variant of KIF1A (Kinesin-like protein KIF1A)
G102S (p.Gly102Ser) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G102S (p.Gly102Ser) variant details
- p.Gly102Ser
- rs1064795534
- ClinGen CA16617512
- ClinVar RCV000487011
- ClinVar RCV000534578
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- 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: Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (PMID 26410750)
- Cited in: Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. (PMID 29934652)