L18L (p.Leu18Leu) variant of ELN (Elastin)
L18L (p.Leu18Leu) in ELN (Elastin) 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.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- gnomAD 7-74028241-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available