G68R (p.Gly68Arg) variant of ELN (Elastin)
G68R (p.Gly68Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs372566075
- ClinGen CA4292378
- cosmic curated COSV52712
- ClinVar RCV000627825
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: FBLN5-Related Cutis Laxa. (PMID 20301756)
- Cited in: ELN-Related Cutis Laxa. (PMID 36173875)