G1700V (p.Gly1700Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1700V (p.Gly1700Val) 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.
G1700V (p.Gly1700Val) variant details
- p.Gly1700Val
- rs2107703081
- ClinGen CA352678523
- ClinVar RCV002277077
- Ensembl rs2107703081
- Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.55
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)