L48I (p.Leu48Ile) variant of ELN (Elastin)
L48I (p.Leu48Ile) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L48I (p.Leu48Ile) variant details
- p.Leu48Ile
- ExAC rs782184746
- TOPMed rs782184746
- gnomAD rs782184746
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.28
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available