G2073C (p.Gly2073Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2073C (p.Gly2073Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions.
G2073C (p.Gly2073Cys) variant details
- p.Gly2073Cys
- rs2107672112
- ClinGen CA352662441
- ClinVar RCV001548070
- Ensembl rs2107672112
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.63
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)