G6R (p.Gly6Arg) variant of GATA6 (Transcription factor GATA-6)
G6R (p.Gly6Arg) 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 Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs139750927
- ClinGen CA297146943
- ClinVar RCV002049490
- ESP rs139750927
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available