A36R (p.Ala36Arg) variant of CDKN2A (Tumor suppressor ARF)
A36R (p.Ala36Arg) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A36R (p.Ala36Arg) variant details
- p.Ala36Arg
- rs2489327427
- ClinGen CA2580616160
- ClinVar RCV003316927
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)