A46A (p.Ala46Ala) variant of ELN (Elastin)
A46A (p.Ala46Ala) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A46A (p.Ala46Ala) variant details
- p.Ala46Ala
- rs1789998777
- gnomAD 7-74036559-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available