E241K (p.Glu241Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E241K (p.Glu241Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ehlers-Danlos syndrome; Cardiovascular phenotype; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
E241K (p.Glu241Lys) variant details
- p.Glu241Lys
- rs1553507432
- ClinGen CA349849021
- ClinVar RCV000634707
- ClinVar RCV002279457
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome; Cardiovascular phenotype; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.79
- MetaLR 0.78
- MetaSVM 0.44
- PolyPhen-2 0.63
- SIFT 0.01
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome; Cardiovascular phenotype; Ehlers-Danlos)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)