E16Q (p.Glu16Gln) variant of VHL (P40337)
E16Q (p.Glu16Gln) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs1060503556
- ClinGen CA16611058
- ClinVar RCV000460356
- ClinVar RCV002329079
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.48
- CADD 18.80
- PolyPhen-2 0.73
- SIFT 0.17
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)