A32S (p.Ala32Ser) variant of ELN (Elastin)
A32S (p.Ala32Ser) in ELN (Elastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- ExAC rs782238204
- gnomAD rs782238204
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.27
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available