G2012V (p.Gly2012Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2012V (p.Gly2012Val) 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 Transient bullous dermolysis of the newborn. The record also includes variant effect predictions and published literature.
G2012V (p.Gly2012Val) variant details
- p.Gly2012Val
- rs2107674937
- ClinGen CA352663733
- ClinVar RCV002249010
- Ensembl rs2107674937
- Likely pathogenic
- Transient bullous dermolysis of the newborn
- Missense
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Transient bullous dermolysis of the newborn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)