R82P (p.Arg82Pro) variant of CDKN2A (Tumor suppressor ARF)
R82P (p.Arg82Pro) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- rs1819719137
- ClinGen CA373086342
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10044
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome
- 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: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome)
- 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)