G1673E (p.Gly1673Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1673E (p.Gly1673Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epid. The record also includes variant effect predictions and published literature.
G1673E (p.Gly1673Glu) variant details
- p.Gly1673Glu
- rs2107706848
- ClinGen CA352679773
- ClinVar RCV002244182
- Ensembl rs2107706848
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epid
- Missense
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa; Generalized dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)