R54C (p.Arg54Cys) variant of CDKN2A (Tumor suppressor ARF)
R54C (p.Arg54Cys) 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 and neural system tumor syndrome; Familial melanoma; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs896054565
- ClinGen CA373086827
- ClinVar RCV001068140
- ClinVar RCV002393328
- Uncertain significance
- Melanoma and neural system tumor syndrome; Familial melanoma; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 24.30
- ClinVar: Uncertain significance (Melanoma and neural system tumor syndrome; Familial melanoma; He)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)