H28Q (p.His28Gln) variant of GATA4 (Transcription factor GATA-4)
H28Q (p.His28Gln) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- gnomAD 8-11708396-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.84
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available