E27A (p.Glu27Ala) variant of VHL (P40337)
E27A (p.Glu27Ala) 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; Chuvash polycythemia; Nonpapillary renal cell carcin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- rs2125124617
- ClinGen CA351747474
- ClinVar RCV004008235
- ClinVar RCV004573451
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Nonpapillary renal cell carcin
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.71
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.27
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Nonpapillary r)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)