L14L (p.Leu14Leu) variant of ESR1 (Estrogen receptor)
L14L (p.Leu14Leu) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs2128155315
- gnomAD 6-151807952-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 8.42
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available