H28N (p.His28Asn) variant of GATA4 (Transcription factor GATA-4)
H28N (p.His28Asn) 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 0.86 / 1. The record also includes population frequency data and structural context.
H28N (p.His28Asn) variant details
- p.His28Asn
- TOPMed rs1406275331
- gnomAD rs1406275331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available