P44L (p.Pro44Leu) variant of ELN (Elastin)
P44L (p.Pro44Leu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- gnomAD 7-74035412-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.54
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available