R2580C (p.Arg2580Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2580C (p.Arg2580Cys) 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; Dominant dystrophic epidermolysis bullosa wit. The record also includes variant effect predictions, population frequency data, and published literature.
R2580C (p.Arg2580Cys) variant details
- p.Arg2580Cys
- rs762084565
- ClinGen CA2378341
- ClinVar RCV001352867
- ClinVar RCV002276707
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; Dominant dystrophic epidermolysis bullosa wit
- Missense
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; Dominant dystrophic epidermol)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)