R20* (p.Arg20Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
R20* (p.Arg20Ter) in COL7A1 (Collagen alpha-1(VII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
R20* (p.Arg20Ter) variant details
- p.Arg20Ter
- rs886039562
- ClinGen CA10588369
- ClinVar RCV000254769
- ClinVar RCV005031840
- Pathogenic
- Stop Gained
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)