G16R (p.Gly16Arg) variant of CDKN2A (Tumor suppressor ARF)
G16R (p.Gly16Arg) 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 0.40 / 1. The record also includes published literature and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs773459232
- ClinGen CA373087049
- ClinVar RCV001927356
- ClinVar RCV002334828
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.46
- MetaLR 0.11
- MetaSVM -0.98
- SIFT 0.88
- EVE 0.69
- 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)