R316Q (p.Arg316Gln) variant of KIF1A (Kinesin-like protein KIF1A)
R316Q (p.Arg316Gln) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
R316Q (p.Arg316Gln) variant details
- p.Arg316Gln
- rs749718096
- ClinGen CA16042465
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5748
- Conflicting interpretations
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.61
- CADD 27.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Population evidence available
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)