L4M (p.Leu4Met) variant of ELN (Elastin)
L4M (p.Leu4Met) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 7-74028197-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available