E10D (p.Glu10Asp) variant of VHL (P40337)
E10D (p.Glu10Asp) 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.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs963501454
- ClinGen CA70042189
- ClinVar RCV000821203
- ClinVar RCV001018646
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.61
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.18
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- 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)