S19S (p.Ser19Ser) variant of ELN (Elastin)
S19S (p.Ser19Ser) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S19S (p.Ser19Ser) variant details
- p.Ser19Ser
- gnomAD 7-74028244-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available