E10Q (p.Glu10Gln) variant of VHL (P40337)
E10Q (p.Glu10Gln) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- rs1057519261
- ClinGen CA351747087
- ClinVar RCV001345999
- ClinVar RCV002438799
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.48
- CADD 12.60
- PolyPhen-2 0.32
- SIFT 0.13
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)