A15E (p.Ala15Glu) variant of VHL (P40337)
A15E (p.Ala15Glu) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 3-10141891-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.33
- MetaLR 0.36
- MetaSVM -0.71
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available