G2006A (p.Gly2006Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2006A (p.Gly2006Ala) 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 Epidermolysis bullosa; not provided. The record also includes variant effect predictions and published literature.
G2006A (p.Gly2006Ala) variant details
- p.Gly2006Ala
- rs121912842
- ClinGen CA352663866
- ClinVar RCV002651685
- ClinVar RCV005241255
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa; not provided
- Missense
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa; not provided)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test… (PMID 10504458)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)