Y16D (p.Tyr16Asp) variant of GATA5 (Transcription factor GATA-5)
Y16D (p.Tyr16Asp) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
Y16D (p.Tyr16Asp) variant details
- p.Tyr16Asp
- rs1555897088
- ClinGen CA409557988
- ClinVar RCV000590859
- UniProt VAR 073310
- Pathogenic
- Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.21
- MetaLR 0.98
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.69
- ClinVar: Pathogenic (Congenital heart defects, multiple types, 5)
- EBI: Pathogenic (in CHTD5)
- UniProt: Pathogenic (in CHTD5)
- Structural context available
- Cited in: GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. (PMID 24638895)
- Cited in: Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. (PMID 22483626)