G7V (p.Gly7Val) variant of GATA6 (Transcription factor GATA-6)
G7V (p.Gly7Val) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.16
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available