K315R (p.Lys315Arg) variant of ELN (Elastin)
K315R (p.Lys315Arg) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
K315R (p.Lys315Arg) variant details
- p.Lys315Arg
- rs1554676454
- ClinGen CA367871485
- ClinVar RCV000627826
- Ensembl rs1554676454
- Pathogenic
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.20
- MetaLR 0.17
- MetaSVM -0.86
- PolyPhen-2 0.96
- SIFT 0.31
- MutPred 0.31
- ClinVar: Pathogenic (Supravalvar aortic stenosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available