A6V (p.Ala6Val) variant of ELN (Elastin)
A6V (p.Ala6Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- ExAC rs782601747
- TOPMed rs782601747
- gnomAD rs782601747
- Uncertain significance
- Inborn genetic diseases; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available