H11Y (p.His11Tyr) variant of GATA4 (Transcription factor GATA-4)
H11Y (p.His11Tyr) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- gnomAD rs1350855665
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 1.02
- CADD 24.80
- PolyPhen-2 0.65
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available