N10K (p.Asn10Lys) variant of GATA4 (Transcription factor GATA-4)
N10K (p.Asn10Lys) 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 Cardiovascular phenotype; Atrioventricular septal defect 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N10K (p.Asn10Lys) variant details
- p.Asn10Lys
- rs1274085631
- ClinGen CA370308526
- ClinVar RCV001874616
- ClinVar RCV002324261
- Uncertain significance
- Cardiovascular phenotype; Atrioventricular septal defect 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.69
- MetaLR 0.16
- MetaSVM -0.93
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrioventricular septal defect 4; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available