E70K (p.Glu70Lys) variant of VHL (P40337)
E70K (p.Glu70Lys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Nonpapillar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- rs5030802
- Civic 1956
- ClinGen CA020108
- ClinVar RCV000036540
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Nonpapillar
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.67
- MetaLR 0.95
- MetaSVM 1.03
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.42
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)