A5E (p.Ala5Glu) variant of VHL (P40337)
A5E (p.Ala5Glu) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 3-10141861-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.31
- MetaLR 0.52
- MetaSVM -0.40
- CADD 23.30
- PolyPhen-2 0.61
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available