G16V (p.Gly16Val) variant of GATA4 (Transcription factor GATA-4)
G16V (p.Gly16Val) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.54
- MetaLR 0.09
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.76
- SIFT 0.45
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available