I20I (p.Ile20Ile) variant of ELN (Elastin)
I20I (p.Ile20Ile) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I20I (p.Ile20Ile) variant details
- p.Ile20Ile
- rs1787874288
- gnomAD 7-74028247-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available