G2719A (p.Gly2719Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2719A (p.Gly2719Ala) 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 not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G2719A (p.Gly2719Ala) variant details
- p.Gly2719Ala
- rs1164917118
- ClinGen CA352639970
- ClinVar RCV002651674
- ClinVar RCV006460481
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa
- Missense
- AlphaMissense 0.92
- MetaLR 0.93
- MetaSVM 1.10
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa; Epider)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)