p.Leu3 Thr4delinsSer variant of GATA6 (Transcription factor GATA-6)
p.Leu3 Thr4delinsSer in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu3 Thr4delinsSer variant details
- gnomAD 18-22171151-TTGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available