L16L (p.Leu16Leu) variant of ELN (Elastin)
L16L (p.Leu16Leu) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs1381827132
- gnomAD 7-74028235-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available