A55V (p.Ala55Val) variant of ELN (Elastin)
A55V (p.Ala55Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs1411248717
- ClinGen CA367868983
- ClinVar RCV000793382
- TOPMed rs1411248717
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available