D2H (p.Asp2His) variant of EDN1 (Endothelin-1)
D2H (p.Asp2His) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- ExAC rs201943749
- TOPMed rs201943749
- gnomAD rs201943749
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.53
- MetaLR 0.72
- MetaSVM 0.63
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available