G47G (p.Gly47Gly) variant of ELN (Elastin)
G47G (p.Gly47Gly) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G47G (p.Gly47Gly) variant details
- p.Gly47Gly
- gnomAD 7-74036562-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available