A7A (p.Ala7Ala) variant of ELN (Elastin)
A7A (p.Ala7Ala) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs569660857
- gnomAD 7-74028208-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.83
- Population evidence available
- Structural context available
- Literature evidence available