E31G (p.Glu31Gly) variant of GATA6 (Transcription factor GATA-6)
E31G (p.Glu31Gly) 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 0.41 / 1. The record also includes population frequency data and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.38
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available