I27M (p.Ile27Met) variant of CDKN2A (Tumor suppressor ARF)
I27M (p.Ile27Met) 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 Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs1413839473
- ClinGen CA373086981
- ClinVar RCV001315519
- ClinVar RCV004609751
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 22.60
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)