L17L (p.Leu17Leu) variant of ELN (Elastin)
L17L (p.Leu17Leu) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs781820838
- gnomAD 7-74028236-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available