M1I (p.Met1Ile) variant of CDKN2A (Tumor suppressor ARF)
M1I (p.Met1Ile) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial melanoma. The record also includes variant effect predictions, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1820538211
- ClinGen CA373087134
- ClinVar RCV001317779
- ClinVar RCV005866941
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- MetaLR 0.33
- MetaSVM -0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)