Y18C (p.Tyr18Cys) variant of GATA4 (Transcription factor GATA-4)
Y18C (p.Tyr18Cys) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- gnomAD 8-11708365-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.86
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available