G1922E (p.Gly1922Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1922E (p.Gly1922Glu) 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 Epidermolysis bullosa dystrophica; Generalized dominant dystrophic epidermolysis. The record also includes variant effect predictions and published literature.
G1922E (p.Gly1922Glu) variant details
- p.Gly1922Glu
- rs2107680342
- ClinGen CA352666452
- ClinVar RCV002277079
- Ensembl rs2107680342
- Likely pathogenic
- Epidermolysis bullosa dystrophica; Generalized dominant dystrophic epidermolysis
- Missense
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Epidermolysis bullosa dystrophica; Generalized dominant dystroph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)