P44S (p.Pro44Ser) variant of EDN1 (Endothelin-1)
P44S (p.Pro44Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- ESP rs370873027
- ExAC rs370873027
- TOPMed rs370873027
- gnomAD rs370873027
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.70
- CADD 9.27
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available