L4L (p.Leu4Leu) variant of ELN (Elastin)
L4L (p.Leu4Leu) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs1787858155
- gnomAD 7-74028199-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available