G15V (p.Gly15Val) variant of GATA6 (Transcription factor GATA-6)
G15V (p.Gly15Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 18-22171188-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.67
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available