L11Q (p.Leu11Gln) variant of EDN1 (Endothelin-1)
L11Q (p.Leu11Gln) in EDN1 (Endothelin-1) 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.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- gnomAD 6-12290661-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.63
- MetaLR 0.75
- MetaSVM 0.64
- CADD 29.80
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available