G53G (p.Gly53Gly) variant of ELN (Elastin)
G53G (p.Gly53Gly) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- rs200810494
- gnomAD 7-74036580-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 15.50
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Literature evidence available