T452A (p.Thr452Ala) variant of GATA6 (Transcription factor GATA-6)
T452A (p.Thr452Ala) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pancreatic hypoplasia-diabetes-congenital heart disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
T452A (p.Thr452Ala) variant details
- p.Thr452Ala
- rs387906817
- ClinGen CA129027
- ClinVar RCV000023133
- UniProt VAR 067384
- Pathogenic
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Pancreatic hypoplasia-diabetes-congenital heart disease syndrome)
- EBI: Pathogenic (in PACHD)
- UniProt: Pathogenic (in PACHD)
- Structural context available
- Cited in: GATA6 haploinsufficiency causes pancreatic agenesis in humans. (PMID 22158542)