E17E (p.Glu17Glu) variant of GNA11 (P29992)
E17E (p.Glu17Glu) in GNA11 (P29992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- gnomAD 19-3094702-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 13.90
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available