R82L (p.Arg82Leu) variant of CDKN2A (Tumor suppressor ARF)
R82L (p.Arg82Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Melanoma-pancreatic cancer syndrome; Fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature.
R82L (p.Arg82Leu) variant details
- p.Arg82Leu
- rs1819719137
- ClinGen CA373086341
- ClinVar RCV001866722
- ClinVar RCV002422904
- Pathogenic
- Hereditary cancer-predisposing syndrome; Melanoma-pancreatic cancer syndrome; Fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.59
- MetaLR 0.42
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (Familial melanoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)