E22G (p.Glu22Gly) variant of VHL (P40337)
E22G (p.Glu22Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- rs2125124570
- ClinGen CA351747380
- ClinVar RCV001898786
- ClinVar RCV002361206
- Uncertain significance
- not specified; not provided; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.30
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.44
- CADD 17.80
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not specified; not provided; Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)