E10E (p.Glu10Glu) variant of VHL (P40337)
E10E (p.Glu10Glu) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- rs963501454
- gnomAD 3-10141877-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.61
- CADD 6.71
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available