M1T (p.Met1Thr) variant of CDKN2A (Tumor suppressor ARF)
M1T (p.Met1Thr) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs759736526
- ClinGen CA5012403
- ClinVar RCV003387332
- ClinVar RCV005871142
- Conflicting interpretations
- Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.31
- MetaSVM -0.65
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melanoma-pancreatic cancer syndrome; Hereditary cancer-predispos)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)