G45G (p.Gly45Gly) variant of ELN (Elastin)
G45G (p.Gly45Gly) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G45G (p.Gly45Gly) variant details
- p.Gly45Gly
- gnomAD 7-74036556-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available