p.Ala7 Ala8del variant of ELN (Elastin)
p.Ala7 Ala8del in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala7 Ala8del variant details
- rs1554659963
- gnomAD 7-74028200-ACGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available