G3D (p.Gly3Asp) variant of ELN (Elastin)
G3D (p.Gly3Asp) 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 0.43 / 1. The record also includes population frequency data and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs1198683869
- ClinGen CA367868634
- cosmic curated COSV52713
- ClinVar RCV001347444
- Uncertain significance
- not provided; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available