G6A (p.Gly6Ala) variant of POLE (Q07864)
G6A (p.Gly6Ala) in POLE (Q07864) 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 0.28 / 1. The record also includes published literature and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- rs772972882
- ClinGen CA387373500
- ClinVar RCV004524050
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -0.92
- PolyPhen-2 0.02
- SIFT 0.14
- MutPred 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)