F5I (p.Phe5Ile) variant of CDKN2A (Tumor suppressor ARF)
F5I (p.Phe5Ile) 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; not provided; Melanoma-pancreatic cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
F5I (p.Phe5Ile) variant details
- p.Phe5Ile
- rs776987532
- ClinGen CA5012402
- ClinVar RCV000409400
- ClinVar RCV000638997
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Melanoma-pancreatic cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 23.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Melanoma-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- 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)