G29R (p.Gly29Arg) variant of GATA4 (Transcription factor GATA-4)
G29R (p.Gly29Arg) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- TOPMed rs1053092495
- gnomAD rs1053092495
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.51
- MetaLR 0.81
- MetaSVM 0.31
- CADD 6.14
- PolyPhen-2 0.13
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available