Q3H (p.Gln3His) variant of GATA4 (Transcription factor GATA-4)
Q3H (p.Gln3His) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- gnomAD 8-11708321-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.75
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available