R456L (p.Arg456Leu) variant of GATA6 (Transcription factor GATA-6)
R456L (p.Arg456Leu) 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 0.98 / 1. The record also includes structural context.
R456L (p.Arg456Leu) variant details
- p.Arg456Leu
- rs387906819
- ClinGen CA401802404
- ClinVar RCV003315168
- Pathogenic
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- 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 (Pancreatic hypoplasia-diabetes-congenital heart disease syndrome)
- EBI: Pathogenic (in PACHD)
- UniProt: Pathogenic (in PACHD)
- Structural context available