E16E (p.Glu16Glu) variant of VHL (P40337)
E16E (p.Glu16Glu) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E16E (p.Glu16Glu) variant details
- p.Glu16Glu
- rs1057522140
- gnomAD 3-10141895-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.52
- CADD 6.52
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available