F23L (p.Phe23Leu) variant of CDKN2A (Tumor suppressor ARF)
F23L (p.Phe23Leu) 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 Melanoma-pancreatic cancer syndrome; 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 and published literature.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- rs374360796
- ClinGen CA5012396
- ClinVar RCV000411867
- ClinVar RCV002365449
- Uncertain significance
- Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 25.10
- ClinVar: Uncertain significance (Melanoma-pancreatic cancer syndrome; Hereditary cancer-predispos)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)