R98G (p.Arg98Gly) variant of CDKN2A (Tumor suppressor ARF)
R98G (p.Arg98Gly) 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; Melanoma-pancreatic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R98G (p.Arg98Gly) variant details
- p.Arg98Gly
- rs34968276
- ClinGen CA16602820
- NCI-TCGA Cosmic COSV5868
- NCI-TCGA Cosmic COSV5871
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma-pancreatic
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.88
- MetaLR 0.61
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome; Mela)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)