Q3R (p.Gln3Arg) variant of GATA4 (Transcription factor GATA-4)
Q3R (p.Gln3Arg) 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.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- gnomAD 8-11708320-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.85
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available