E179G (p.Glu179Gly) variant of KIF1A (Kinesin-like protein KIF1A)
E179G (p.Glu179Gly) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.64 / 1. The record also includes published literature.
E179G (p.Glu179Gly) variant details
- p.Glu179Gly
- rs879253948
- ClinGen CA10584199
- ClinVar RCV000237085
- ClinVar RCV003765471
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.94
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)