G16S (p.Gly16Ser) variant of CDKN2A (Tumor suppressor ARF)
G16S (p.Gly16Ser) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial melanoma; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs773459232
- ClinGen CA5012399
- cosmic curated COSV10084
- ClinVar RCV001062337
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.46
- MetaLR 0.11
- MetaSVM -0.98
- CADD 19.90
- SIFT 0.88
- EVE 0.69
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- 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)