A16V (p.Ala16Val) variant of GATA6 (Transcription factor GATA-6)
A16V (p.Ala16Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 18-22171191-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available