E22E (p.Glu22Glu) variant of VHL (P40337)
E22E (p.Glu22Glu) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs768452685
- gnomAD 3-10141913-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 7.47
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available