E239K (p.Glu239Lys) variant of KIF1A (Kinesin-like protein KIF1A)
E239K (p.Glu239Lys) 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 0.79 / 1. The record also includes population frequency data and published literature.
E239K (p.Glu239Lys) variant details
- p.Glu239Lys
- UniProt VAR 090133
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.79
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance (found in a family with axonal-type Charcot-Marie-Tooth disease)
- UniProt: Uncertain significance (found in a family with axonal-type Charcot-Marie-Tooth disease)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Cited in: A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. (PMID 35132656)