R98Q (p.Arg98Gln) variant of CDKN2A (Tumor suppressor ARF)
R98Q (p.Arg98Gln) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Familial melanoma; Melanoma-pancreatic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R98Q (p.Arg98Gln) variant details
- p.Arg98Gln
- rs11552822
- ClinGen CA10578842
- NCI-TCGA Cosmic COSV5868
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial melanoma; Melanoma-pancreatic
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.84
- MetaLR 0.63
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.40
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial melanoma; Mela)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKN2A (p16INK4A) somatic and germline mutations. (PMID 8723678)
- Cited in: Clinical utility gene card for: Alveolar rhabdomyosarcoma. (PMID 21829230)