G65R (p.Gly65Arg) variant of CDKN2A (Tumor suppressor ARF)
G65R (p.Gly65Arg) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- rs2131147969
- ClinGen CA373086764
- cosmic curated COSV64265
- ClinVar RCV002026032
- Pathogenic/Likely pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.48
- MetaLR 0.70
- MetaSVM 0.52
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial melanoma; Hereditary cancer-predisposing syndrome)
- 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)