G24D (p.Gly24Asp) variant of GATA4 (Transcription factor GATA-4)
G24D (p.Gly24Asp) 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.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 8-11708383-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.76
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available