G1913V (p.Gly1913Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1913V (p.Gly1913Val) 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. The record also includes variant effect predictions and published literature.
G1913V (p.Gly1913Val) variant details
- p.Gly1913Val
- rs2107680443
- ClinGen CA352666692
- ClinVar RCV002225232
- Ensembl rs2107680443
- Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)