E22E (p.Glu22Glu) variant of ESR1 (Estrogen receptor)
E22E (p.Glu22Glu) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs2128155478
- gnomAD 6-151807978-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 13.70
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available