E21G (p.Glu21Gly) variant of VHL (P40337)
E21G (p.Glu21Gly) in VHL (P40337) 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 0.40 / 1. The record also includes published literature and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- rs1060503548
- ClinGen CA351747347
- ClinVar RCV003306571
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.66
- PolyPhen-2 0.10
- SIFT 0.00
- MutPred 0.23
- 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)