A2V (p.Ala2Val) variant of GATA6 (Transcription factor GATA-6)
A2V (p.Ala2Val) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 18-22171148-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available