E33G (p.Glu33Gly) variant of CDKN2A (Tumor suppressor ARF)
E33G (p.Glu33Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs1820531368
- ClinGen CA373086950
- cosmic curated COSV64255
- ClinVar RCV001315687
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.26
- MetaLR 0.38
- MetaSVM -0.66
- SIFT 0.09
- EVE 0.27
- ClinVar: Uncertain significance (Familial melanoma)
- 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)