L56P (p.Leu56Pro) variant of ELN (Elastin)
L56P (p.Leu56Pro) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- gnomAD 7-74037710-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.38
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available