R13C (p.Arg13Cys) variant of GATA6 (Transcription factor GATA-6)
R13C (p.Arg13Cys) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tetralogy of Fallot; Conotruncal heart malformations; Atrial septal defect 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- gnomAD rs1457687192
- Uncertain significance
- Tetralogy of Fallot; Conotruncal heart malformations; Atrial septal defect 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.72
- CADD 28.40
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Tetralogy of Fallot; Conotruncal heart malformations; Atrial sep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available