R10Q (p.Arg10Gln) variant of ELN (Elastin)
R10Q (p.Arg10Gln) in ELN (Elastin) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- cosmic curated COSV52712
- gnomAD rs1554660008
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available