R25Q (p.Arg25Gln) variant of ELN (Elastin)
R25Q (p.Arg25Gln) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs151272992
- ClinGen CA4292233
- ClinVar RCV003056568
- ClinVar RCV003274181
- Conflicting interpretations
- Inborn genetic diseases; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Supravalvar aortic stenosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- 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)