D9E (p.Asp9Glu) variant of VHL (P40337)
D9E (p.Asp9Glu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- rs1017141110
- ClinGen CA16611250
- ClinVar RCV000456617
- ClinVar RCV002436463
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.82
- CADD 0.76
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)