R167C (p.Arg167Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R167C (p.Arg167Cys) 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 Spastic paraplegia 30A, autosomal dominant; Hereditary spastic paraplegia 30; Ne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
R167C (p.Arg167Cys) variant details
- p.Arg167Cys
- rs672601365
- ClinGen CA212621
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57488
- Pathogenic/Likely pathogenic
- Spastic paraplegia 30A, autosomal dominant; Hereditary spastic paraplegia 30; Ne
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 28.40
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia 30A, autosomal dominant; Hereditary spastic p)
- EBI: Pathogenic (in NESCAVS and SPG30A)
- UniProt: Pathogenic (in NESCAVS and SPG30A)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (PMID 26410750)