G52E (p.Gly52Glu) variant of ELN (Elastin)
G52E (p.Gly52Glu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- rs1165907480
- ClinGen CA367868952
- ClinVar RCV003085405
- ClinVar RCV006363073
- Uncertain significance
- Inborn genetic diseases; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)