G22V (p.Gly22Val) variant of GATA4 (Transcription factor GATA-4)
G22V (p.Gly22Val) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- rs758117613
- ClinGen CA4630598
- ClinVar RCV003643613
- ExAC rs758117613
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.70
- MetaLR 0.93
- MetaSVM 1.05
- CADD 24.80
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available