L18del (p.Leu18del) variant of ELN (Elastin)
L18del (p.Leu18del) in ELN (Elastin) is a missense 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.
L18del (p.Leu18del) variant details
- gnomAD 7-74028224-GTCC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 16.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available