G16C (p.Gly16Cys) variant of CDKN2A (Tumor suppressor ARF)
G16C (p.Gly16Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- ExAC rs773459232
- gnomAD rs773459232
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.46
- MetaLR 0.11
- MetaSVM -0.98
- CADD 22.10
- SIFT 0.88
- EVE 0.69
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available