Q3K (p.Gln3Lys) variant of GATA4 (Transcription factor GATA-4)
Q3K (p.Gln3Lys) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- gnomAD 8-11708319-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available