G31E (p.Gly31Glu) variant of ELN (Elastin)
G31E (p.Gly31Glu) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- rs782625771
- ClinGen CA325096
- ClinVar RCV001328775
- ClinVar RCV001824672
- Uncertain significance
- Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.56
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: FBLN5-Related Cutis Laxa. (PMID 20301756)
- Cited in: ELN-Related Cutis Laxa. (PMID 36173875)