L14L (p.Leu14Leu) variant of ELN (Elastin)
L14L (p.Leu14Leu) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 7-74028229-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.52
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available