G2061V (p.Gly2061Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2061V (p.Gly2061Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and published literature.
G2061V (p.Gly2061Val) variant details
- p.Gly2061Val
- rs2044208810
- ClinGen CA352662709
- ClinVar RCV001352768
- ClinVar RCV002547568
- Pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.72
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)