A2V (p.Ala2Val) variant of ELN (Elastin)
A2V (p.Ala2Val) 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 0.49 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs782766792
- ClinGen CA4292205
- ClinVar RCV002943984
- ExAC rs782766792
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.34
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available