V13L (p.Val13Leu) variant of ELN (Elastin)
V13L (p.Val13Leu) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- ExAC rs782726436
- TOPMed rs782726436
- gnomAD rs782726436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available