G27G (p.Gly27Gly) variant of ELN (Elastin)
G27G (p.Gly27Gly) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G27G (p.Gly27Gly) variant details
- p.Gly27Gly
- gnomAD 7-74028268-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available