G38V (p.Gly38Val) variant of CDKN2A (Tumor suppressor ARF)
G38V (p.Gly38Val) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- rs1563902798
- ClinGen CA373086917
- ClinVar RCV003306232
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.34
- MetaLR 0.34
- MetaSVM -0.68
- CADD 10.60
- SIFT 0.04
- EVE 0.54
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)