E26A (p.Glu26Ala) variant of VHL (P40337)
E26A (p.Glu26Ala) 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.
E26A (p.Glu26Ala) variant details
- p.Glu26Ala
- gnomAD 3-10141924-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.35
- MetaLR 0.28
- MetaSVM -0.77
- CADD 13.80
- PolyPhen-2 0.05
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available