H11P (p.His11Pro) variant of GATA4 (Transcription factor GATA-4)
H11P (p.His11Pro) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
H11P (p.His11Pro) variant details
- p.His11Pro
- rs1585594672
- ClinGen CA370308538
- ClinVar RCV003002646
- ClinVar RCV004721098
- Uncertain significance
- Atrioventricular septal defect 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.49
- MetaLR 0.11
- MetaSVM -1.03
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available