K91E (p.Lys91Glu) variant of EDN1 (Endothelin-1)
K91E (p.Lys91Glu) 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 0.52 / 1. The record also includes published literature and structural context.
K91E (p.Lys91Glu) variant details
- p.Lys91Glu
- rs587777231
- ClinGen CA150779
- ClinVar RCV000106312
- UniProt VAR 071154
- Pathogenic
- Auriculocondylar syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.60
- MetaLR 0.52
- MetaSVM 0.22
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic (Auriculocondylar syndrome 3)
- EBI: Pathogenic (in ARCND3)
- UniProt: Pathogenic (in ARCND3)
- Structural context available
- Cited in: Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. (PMID 23315542)
- Cited in: Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID 24268655)