G38E (p.Gly38Glu) variant of CDKN2A (Tumor suppressor ARF)
G38E (p.Gly38Glu) 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 0.41 / 1. The record also includes population frequency data and published literature.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs1563902798
- ClinGen CA373086919
- ClinVar RCV000702320
- ClinVar RCV005791927
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -1.00
- CADD 13.00
- SIFT 0.30
- EVE 0.20
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)