E6A (p.Glu6Ala) variant of VHL (P40337)
E6A (p.Glu6Ala) 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 0.39 / 1. The record also includes published literature and structural context.
E6A (p.Glu6Ala) variant details
- p.Glu6Ala
- rs1696114029
- ClinGen CA351747033
- ClinVar RCV001071455
- ClinVar RCV004950253
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.28
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- 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)