A17G (p.Ala17Gly) variant of GATA6 (Transcription factor GATA-6)
A17G (p.Ala17Gly) 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.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs1030316600
- ClinGen CA297147005
- ClinVar RCV001874192
- TOPMed rs1030316600
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.27
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.08
- 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 2.4e-05)
- Structural context available