G6S (p.Gly6Ser) variant of GATA6 (Transcription factor GATA-6)
G6S (p.Gly6Ser) 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 Inborn genetic diseases; Atrioventricular septal defect 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs139750927
- ClinGen CA8908788
- ClinVar RCV001236113
- ClinVar RCV002563847
- Uncertain significance
- Inborn genetic diseases; Atrioventricular septal defect 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Atrioventricular septal defect 5; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)