G2701W (p.Gly2701Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2701W (p.Gly2701Trp) 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 Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic epidermolysis b. The record also includes variant effect predictions and published literature.
G2701W (p.Gly2701Trp) variant details
- p.Gly2701Trp
- rs1575418015
- ClinGen CA352640428
- ClinVar RCV000991328
- Ensembl rs1575418015
- Likely pathogenic
- Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic epidermolysis b
- Missense
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Pretibial dystrophic epidermolysis bullosa; Recessive dystrophic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)