G2221A (p.Gly2221Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2221A (p.Gly2221Ala) 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. The record also includes variant effect predictions and published literature.
G2221A (p.Gly2221Ala) variant details
- p.Gly2221Ala
- rs200382597
- ClinGen CA352655730
- ClinVar RCV001352816
- ESP rs200382597
- Pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Cited in: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (PMID 20108428)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)