R456C (p.Arg456Cys) variant of GATA6 (Transcription factor GATA-6)
R456C (p.Arg456Cys) 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 Inborn genetic diseases; Pancreatic hypoplasia-diabetes-congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R456C (p.Arg456Cys) variant details
- p.Arg456Cys
- rs387906818
- ClinGen CA129029
- NCI-TCGA Cosmic COSV5252
- cosmic curated COSV52526
- Pathogenic
- Inborn genetic diseases; Pancreatic hypoplasia-diabetes-congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.95
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; Pancreatic hypoplasia-diabetes-congenit)
- EBI: Pathogenic (in PACHD)
- UniProt: Pathogenic (in PACHD)
- Population evidence available
- Structural context available
- Cited in: GATA6 haploinsufficiency causes pancreatic agenesis in humans. (PMID 22158542)
- Cited in: Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. (PMID 24385578)