G2049E (p.Gly2049Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2049E (p.Gly2049Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica; n. The record also includes variant effect predictions, population frequency data, and published literature.
G2049E (p.Gly2049Glu) variant details
- p.Gly2049Glu
- rs1410793870
- ClinGen CA352662972
- ClinVar RCV001352764
- ClinVar RCV002547567
- Pathogenic/Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica; n
- Missense
- AlphaMissense 0.31
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Recessive dystrophic epidermolysis bullosa; Epidermolysis bullos)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent… (PMID 20598510)
- Cited in: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for… (PMID 9326325)