G18V (p.Gly18Val) variant of GATA6 (Transcription factor GATA-6)
G18V (p.Gly18Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 18-22171197-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.33
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available