L51P (p.Leu51Pro) variant of ELN (Elastin)
L51P (p.Leu51Pro) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- rs2484849975
- ClinGen CA367868946
- ClinVar RCV002508391
- ClinVar RCV002571554
- Uncertain significance
- not provided; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.54
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available