A26V (p.Ala26Val) variant of GATA6 (Transcription factor GATA-6)
A26V (p.Ala26Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 18-22171221-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.31
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available