E10A (p.Glu10Ala) variant of VHL (P40337)
E10A (p.Glu10Ala) 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; Hereditary cancer-predisposing syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- rs786204065
- ClinGen CA351747093
- ClinVar RCV003789849
- ClinVar RCV004005999
- Uncertain significance
- Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.12
- MetaLR 0.33
- MetaSVM -0.66
- PolyPhen-2 0.70
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)