P44P (p.Pro44Pro) variant of ELN (Elastin)
P44P (p.Pro44Pro) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P44P (p.Pro44Pro) variant details
- p.Pro44Pro
- gnomAD 7-74035413-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available