R12G (p.Arg12Gly) variant of CDKN2A (Tumor suppressor ARF)
R12G (p.Arg12Gly) 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 Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs1587358659
- ClinGen CA373087073
- cosmic curated COSV64261
- ClinVar RCV001020459
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.35
- MetaLR 0.25
- MetaSVM -0.76
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)