R9* (p.Arg9Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R9* (p.Arg9Ter) in COL17A1 (Collagen alpha-1(XVII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs775196743
- ClinGen CA5679618
- ClinVar RCV000489975
- ClinVar RCV000991294
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)