E682K (p.Glu682Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E682K (p.Glu682Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E682K (p.Glu682Lys) variant details
- p.Glu682Lys
- rs2153502995
- ClinGen CA349839882
- ClinVar RCV001384794
- ClinVar RCV002276721
- Pathogenic
- Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)