R72* (p.Arg72Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R72* (p.Arg72Ter) 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 0.55 / 1. The record also includes population frequency data and published literature.
R72* (p.Arg72Ter) variant details
- p.Arg72Ter
- rs760094345
- ClinGen CA5679516
- cosmic curated COSV62228
- ClinVar RCV000710066
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)