E6D (p.Glu6Asp) variant of VHL (P40337)
E6D (p.Glu6Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- rs1004620245
- ClinGen CA16611153
- ClinVar RCV000459599
- ClinVar RCV002411515
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.80
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.98
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)