G72D (p.Gly72Asp) variant of ELN (Elastin)
G72D (p.Gly72Asp) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- ExAC rs782513843
- TOPMed rs782513843
- gnomAD rs782513843
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- AlphaMissense 0.12
- MetaLR 0.46
- MetaSVM -0.57
- CADD 23.70
- PolyPhen-2 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available