G21V (p.Gly21Val) variant of GATA4 (Transcription factor GATA-4)
G21V (p.Gly21Val) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs202213149
- ClinGen CA4630597
- ClinVar RCV000621988
- 1000Genomes rs202213149
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.71
- MetaLR 0.90
- MetaSVM 0.88
- CADD 24.30
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available