C15R (p.Cys15Arg) variant of CDKN2A (Tumor suppressor ARF)
C15R (p.Cys15Arg) 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; Familial melanoma; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
C15R (p.Cys15Arg) variant details
- p.Cys15Arg
- rs1554659236
- ClinGen CA373087056
- ClinVar RCV000662739
- ClinVar RCV001022430
- Uncertain significance
- Melanoma-pancreatic cancer syndrome; Familial melanoma; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- CADD 2.38
- ClinVar: Uncertain significance (Melanoma-pancreatic cancer syndrome; Familial melanoma; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)