G28W (p.Gly28Trp) variant of ELN (Elastin)
G28W (p.Gly28Trp) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G28W (p.Gly28Trp) variant details
- p.Gly28Trp
- gnomAD 7-74028269-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.68
- CADD 36.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available