G83L (p.Gly83Leu) variant of CDKN2A (Tumor suppressor ARF)
G83L (p.Gly83Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial melanoma. The record also includes published literature and structural context.
G83L (p.Gly83Leu) variant details
- p.Gly83Leu
- rs2131095862
- ClinGen CA645552526
- ClinVar RCV001389216
- Ensembl rs2131095862
- Pathogenic
- Familial melanoma
- Missense
- ClinVar: Pathogenic (Familial melanoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)