P77H (p.Pro77His) variant of EDN1 (Endothelin-1)
P77H (p.Pro77His) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Auriculocondylar syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
P77H (p.Pro77His) variant details
- p.Pro77His
- rs587777232
- ClinGen CA150780
- ClinVar RCV000106313
- UniProt VAR 071153
- Pathogenic
- Auriculocondylar syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.89
- MetaLR 0.85
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Auriculocondylar syndrome 3)
- EBI: Pathogenic (in ARCND3)
- UniProt: Pathogenic (in ARCND3)
- Structural context available
- Cited in: Auriculo-condylar syndrome: additional patients. (PMID 12244558)
- Cited in: Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID 24268655)