E253K (p.Glu253Lys) variant of KIF1A (Kinesin-like protein KIF1A)
E253K (p.Glu253Lys) 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 Early-infantile developmental and epileptic encephalopathy; KIF1A-related disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and published literature.
E253K (p.Glu253Lys) variant details
- p.Glu253Lys
- rs672601369
- ClinGen CA212633
- cosmic curated COSV10813
- ClinVar RCV000149481
- Pathogenic
- Early-infantile developmental and epileptic encephalopathy; KIF1A-related disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- CADD 26.30
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic (Early-infantile developmental and epileptic encephalopathy; KIF1)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Population evidence available
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)