E12A (p.Glu12Ala) variant of VHL (P40337)
E12A (p.Glu12Ala) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- gnomAD 3-10141882-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.15
- MetaLR 0.33
- MetaSVM -0.68
- CADD 6.88
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available