R167H (p.Arg167His) variant of KIF1A (Kinesin-like protein KIF1A)
R167H (p.Arg167His) 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 not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
R167H (p.Arg167His) variant details
- p.Arg167His
- rs2054757914
- ClinGen CA351306501
- ClinVar RCV001251216
- ClinVar RCV001879816
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.75
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 30; Neuropathy, here)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)