A6A (p.Ala6Ala) variant of ELN (Elastin)
A6A (p.Ala6Ala) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 7-74028205-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available