G28G (p.Gly28Gly) variant of ELN (Elastin)
G28G (p.Gly28Gly) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- rs782193520
- gnomAD 7-74035365-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 9.29
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available