G279R (p.Gly279Arg) variant of KIF1A (Kinesin-like protein KIF1A)
G279R (p.Gly279Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature.
G279R (p.Gly279Arg) variant details
- p.Gly279Arg
- rs1473143877
- ClinGen CA351302570
- ClinVar RCV002462661
- UniProt VAR 086877
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)