G2245D (p.Gly2245Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2245D (p.Gly2245Asp) 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 Generalized dominant dystrophic epidermolysis bullosa; Recessive dystrophic epid. The record also includes variant effect predictions and published literature.
G2245D (p.Gly2245Asp) variant details
- p.Gly2245Asp
- rs2107660525
- ClinGen CA352655108
- ClinVar RCV001732867
- ClinVar RCV003910990
- Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; Recessive dystrophic epid
- Missense
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa; Recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)