E16K (p.Glu16Lys) variant of VHL (P40337)
E16K (p.Glu16Lys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; Von Hippel-Lindau syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD rs1060503556
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Von Hippel-Lindau syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.41
- MetaLR 0.47
- MetaSVM -0.49
- CADD 20.60
- PolyPhen-2 0.64
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Von Hipp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available