E21Q (p.Glu21Gln) variant of VHL (P40337)
E21Q (p.Glu21Gln) 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; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- rs2125124562
- ClinGen CA351747333
- ClinVar RCV003779423
- ClinVar RCV006292462
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.12
- MetaLR 0.29
- MetaSVM -0.74
- PolyPhen-2 0.25
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- 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)