G32E (p.Gly32Glu) variant of CDKN2A (Tumor suppressor ARF)
G32E (p.Gly32Glu) 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 published literature and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- rs370655358
- ClinGen CA373086957
- ClinVar RCV000561690
- ClinVar RCV001217808
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.18
- MetaLR 0.30
- MetaSVM -0.78
- SIFT 0.16
- EVE 0.41
- 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)