K2483E (p.Lys2483Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
K2483E (p.Lys2483Glu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fetal anomalies with a likely genetic cause; COL6A3-related disorder; Dystonia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K2483E (p.Lys2483Glu) variant details
- p.Lys2483Glu
- rs139260335
- ClinGen CA244831
- cosmic curated COSV99040
- ClinVar RCV000177877
- Pathogenic/Likely pathogenic
- Fetal anomalies with a likely genetic cause; COL6A3-related disorder; Dystonia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.83
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Fetal anomalies with a likely genetic cause; COL6A3-related diso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. (PMID 30706156)
- Cited in: Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in… (PMID 33749658)