R456H (p.Arg456His) variant of GATA6 (Transcription factor GATA-6)
R456H (p.Arg456His) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R456H (p.Arg456His) variant details
- p.Arg456His
- rs387906819
- ClinGen CA129030
- NCI-TCGA Cosmic COSV5252
- cosmic curated COSV52524
- Pathogenic/Likely pathogenic
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely 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)