A2A (p.Ala2Ala) variant of ELN (Elastin)
A2A (p.Ala2Ala) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs782540463
- gnomAD 7-74028193-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available