G56R (p.Gly56Arg) variant of CDKN2A (Tumor suppressor ARF)
G56R (p.Gly56Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- rs1820527345
- ClinGen CA373086818
- ClinVar RCV001212379
- ClinVar RCV002402629
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.25
- MetaLR 0.19
- MetaSVM -0.91
- SIFT 0.34
- EVE 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- 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)