L249Q (p.Leu249Gln) variant of KIF1A (Kinesin-like protein KIF1A)
L249Q (p.Leu249Gln) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L249Q (p.Leu249Gln) variant details
- p.Leu249Gln
- rs672601371
- ClinGen CA212639
- ClinVar RCV000149483
- UniProt VAR 075486
- Likely pathogenic
- Intellectual disability, autosomal dominant 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 9)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Structural context available
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)