R11W (p.Arg11Trp) variant of KIF1A (Kinesin-like protein KIF1A)
R11W (p.Arg11Trp) 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; Inborn genetic diseases; Neuropathy, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs548204329
- ClinGen CA68147204
- cosmic curated COSV10942
- ClinVar RCV000515907
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Inborn genetic diseases; Neuropathy, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.90
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Inborn genetic diseases; Neuro)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic… (PMID 28832565)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)