E16D (p.Glu16Asp) variant of VHL (P40337)
E16D (p.Glu16Asp) 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; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- rs1057522140
- ClinGen CA351747226
- ClinVar RCV000631257
- ClinVar RCV003362869
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.52
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)