R122L (p.Arg122Leu) variant of CDKN2A (Tumor suppressor ARF)
R122L (p.Arg122Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R122L (p.Arg122Leu) variant details
- p.Arg122Leu
- rs121913381
- ClinGen CA299056
- NCI-TCGA Cosmic COSV5868
- cosmic curated COSV58682
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial melanoma
- 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: Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKN2A (p16INK4A) somatic and germline mutations. (PMID 8723678)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)