H11R (p.His11Arg) variant of GATA4 (Transcription factor GATA-4)
H11R (p.His11Arg) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- Ensembl rs1585594672
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.73
- MetaLR 0.20
- MetaSVM -0.89
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available