R122Q (p.Arg122Gln) variant of CDKN2A (Tumor suppressor ARF)
R122Q (p.Arg122Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R122Q (p.Arg122Gln) variant details
- p.Arg122Gln
- rs121913381
- ClinGen CA338052
- NCI-TCGA Cosmic COSV5868
- NCI-TCGA Cosmic COSV5869
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)