G47A (p.Gly47Ala) variant of ELN (Elastin)
G47A (p.Gly47Ala) 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 0.50 / 1. The record also includes population frequency data and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs1554665826
- ClinGen CA367868923
- ClinVar RCV002214433
- ClinVar RCV003089127
- Uncertain significance
- not provided; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.09
- 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 7.2e-06)
- Structural context available