L6F (p.Leu6Phe) variant of CDKN2A (Tumor suppressor ARF)
L6F (p.Leu6Phe) 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. 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.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- rs1820537175
- cosmic curated COSV10084
- ClinGen CA373087103
- ClinVar RCV001206405
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 25.30
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)