R10W (p.Arg10Trp) variant of ELN (Elastin)
R10W (p.Arg10Trp) 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.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs782223292
- ClinGen CA4292217
- ClinVar RCV003219123
- ClinVar RCV005101403
- Uncertain significance
- not provided; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.29
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available