L48L (p.Leu48Leu) variant of ELN (Elastin)
L48L (p.Leu48Leu) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- rs782477397
- gnomAD 7-74036565-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available