H11Q (p.His11Gln) variant of GATA4 (Transcription factor GATA-4)
H11Q (p.His11Gln) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H11Q (p.His11Gln) variant details
- p.His11Gln
- gnomAD 8-11708345-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.58
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available