R11Q (p.Arg11Gln) variant of KIF1A (Kinesin-like protein KIF1A)
R11Q (p.Arg11Gln) 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 Intellectual disability, autosomal dominant 9; Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and published literature.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs1575654528
- ClinGen CA351315977
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57483
- Pathogenic/Likely pathogenic
- Intellectual disability, autosomal dominant 9; Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability, autosomal dominant 9; Hereditary spasti)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. (PMID 32096284)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)