G2216E (p.Gly2216Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2216E (p.Gly2216Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n. The record also includes variant effect predictions, population frequency data, and published literature.
G2216E (p.Gly2216Glu) variant details
- p.Gly2216Glu
- rs781720055
- ClinGen CA2378902
- ClinVar RCV002277064
- ClinVar RCV003089139
- Pathogenic
- Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n
- Missense
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica; Recessive dystrophic epidermo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)