G83S (p.Gly83Ser) variant of CDKN2A (Tumor suppressor ARF)
G83S (p.Gly83Ser) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial melanoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- rs137854597
- ClinGen CA120375
- cosmic curated COSV58713
- ClinVar RCV000010011
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.65
- AlphaMissense 0.32
- MetaLR 0.44
- MetaSVM -0.16
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: A cell cycle regulator potentially involved in genesis of many tumor types. (PMID 8153634)
- Cited in: CDKN2A (p16INK4A) somatic and germline mutations. (PMID 8723678)