G1383R (p.Gly1383Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1383R (p.Gly1383Arg) 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 dystrophica; not provided. The record also includes variant effect predictions and published literature.
G1383R (p.Gly1383Arg) variant details
- p.Gly1383Arg
- rs2045046700
- ClinGen CA352695381
- ClinVar RCV001352842
- ClinVar RCV003558820
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided
- Missense
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; not provided)
- 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)