E124K (p.Glu124Lys) variant of KIF1A (Kinesin-like protein KIF1A)
E124K (p.Glu124Lys) 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 0.67 / 1. The record also includes population frequency data and published literature.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- rs1237269969
- ClinGen CA351309641
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.63
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)