L48P (p.Leu48Pro) variant of ELN (Elastin)
L48P (p.Leu48Pro) in ELN (Elastin) is a protein-truncating 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.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- rs1554665845
- gnomAD 7-74036562-TCTCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available