G2775D (p.Gly2775Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2775D (p.Gly2775Asp) 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 Epidermolysis bullosa dystrophica; not provided. The record also includes variant effect predictions and published literature.
G2775D (p.Gly2775Asp) variant details
- p.Gly2775Asp
- rs773146110
- ClinGen CA352636933
- ClinVar RCV003675713
- ClinVar RCV005407206
- Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided
- Missense
- AlphaMissense 0.53
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Epidermolysis bullosa dystrophica; not provided)
- EBI: Likely pathogenic (in RDEB)
- UniProt: Likely pathogenic (in RDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)