R2628W (p.Arg2628Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2628W (p.Arg2628Trp) 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 not provided; Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
R2628W (p.Arg2628Trp) variant details
- p.Arg2628Trp
- rs376588113
- ClinGen CA2378264
- ClinVar RCV002022864
- ClinVar RCV006262339
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa
- Missense
- CADD 24.80
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)