G38R (p.Gly38Arg) variant of CDKN2A (Tumor suppressor ARF)
G38R (p.Gly38Arg) 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 0.36 / 1. The record also includes published literature.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- rs1346248530
- ClinGen CA373086920
- ClinVar RCV001207337
- ClinVar RCV002322017
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -1.00
- SIFT 0.30
- EVE 0.20
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)