F12L (p.Phe12Leu) variant of EDN1 (Endothelin-1)
F12L (p.Phe12Leu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- gnomAD 6-12290663-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.98
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available