E45Q (p.Glu45Gln) variant of KIF1A (Kinesin-like protein KIF1A)
E45Q (p.Glu45Gln) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs549637772
- ClinGen CA351311785
- ClinVar RCV002775100
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.80
- MetaLR 0.26
- MetaSVM -0.57
- PolyPhen-2 0.05
- SIFT 0.02
- EVE 0.19
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)