A8A (p.Ala8Ala) variant of ELN (Elastin)
A8A (p.Ala8Ala) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 7-74028211-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 8.99
- Population evidence available
- Structural context available
- Literature evidence available