V64D (p.Val64Asp) variant of EDN1 (Endothelin-1)
V64D (p.Val64Asp) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Question mark ears, isolated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V64D (p.Val64Asp) variant details
- p.Val64Asp
- rs587777233
- ClinGen CA150781
- ClinVar RCV000106314
- UniProt VAR 071152
- Pathogenic
- Question mark ears, isolated
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (Question mark ears, isolated)
- EBI: Pathogenic (in QME)
- UniProt: Pathogenic (in QME)
- 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)