I18I (p.Ile18Ile) variant of ESR1 (Estrogen receptor)
I18I (p.Ile18Ile) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- rs766314434
- gnomAD 6-151807966-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available