A18E (p.Ala18Glu) variant of VHL (P40337)
A18E (p.Ala18Glu) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- TOPMed rs1553619302
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.27
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.72
- CADD 12.20
- PolyPhen-2 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available