G125R (p.Gly125Arg) variant of CDKN2A (Tumor suppressor ARF)
G125R (p.Gly125Arg) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma-pancreatic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G125R (p.Gly125Arg) variant details
- p.Gly125Arg
- rs121913389
- cosmic curated COSV58726
- ClinGen CA16602749
- NCI-TCGA Cosmic COSV5868
- Pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma-pancreatic
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.48
- MetaLR 0.79
- MetaSVM 0.37
- SIFT 0.00
- ClinVar: Pathogenic (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)