E17A (p.Glu17Ala) variant of VHL (P40337)
E17A (p.Glu17Ala) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E17A (p.Glu17Ala) variant details
- p.Glu17Ala
- gnomAD 3-10141897-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.33
- MetaLR 0.56
- MetaSVM -0.41
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available