G16D (p.Gly16Asp) variant of CDKN2A (Tumor suppressor ARF)
G16D (p.Gly16Asp) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs1444669684
- ClinGen CA373087046
- ClinVar RCV001978175
- ClinVar RCV002331575
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.27
- MetaLR 0.36
- MetaSVM -0.68
- CADD 19.70
- SIFT 0.55
- EVE 0.50
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)