L28I (p.Leu28Ile) variant of EDN1 (Endothelin-1)
L28I (p.Leu28Ile) in EDN1 (Endothelin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- rs754109007
- ExAC rs754109007
- gnomAD rs754109007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.35
- MetaLR 0.72
- MetaSVM 0.41
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available