L31L (p.Leu31Leu) variant of ESR1 (Estrogen receptor)
L31L (p.Leu31Leu) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs1358381466
- gnomAD 6-151808005-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 14.20
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available