E21A (p.Glu21Ala) variant of VHL (P40337)
E21A (p.Glu21Ala) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- rs1060503548
- ClinGen CA16611259
- ClinVar RCV000476242
- ClinVar RCV001025102
- Uncertain significance
- not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.29
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.66
- CADD 17.60
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)