L60F (p.Leu60Phe) variant of CDKN2A (Tumor suppressor ARF)
L60F (p.Leu60Phe) 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; not specified; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- rs769257927
- ClinGen CA5012377
- ClinVar RCV000638981
- ClinVar RCV005231213
- Uncertain significance
- Familial melanoma; not specified; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 22.60
- ClinVar: Uncertain significance (Familial melanoma; not specified; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- 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)