E26Q (p.Glu26Gln) variant of VHL (P40337)
E26Q (p.Glu26Gln) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs1575921209
- ClinGen CA351747441
- ClinVar RCV003806296
- ClinVar RCV004950696
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.10
- MetaLR 0.32
- MetaSVM -0.70
- PolyPhen-2 0.61
- SIFT 0.03
- MutPred 0.19
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)