L21P (p.Leu21Pro) variant of ELN (Elastin)
L21P (p.Leu21Pro) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- gnomAD 7-74028249-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.58
- CADD 29.30
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available