S19W (p.Ser19Trp) variant of GATA5 (Transcription factor GATA-5)
S19W (p.Ser19Trp) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital heart defects, multiple types, 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S19W (p.Ser19Trp) variant details
- p.Ser19Trp
- rs200383755
- ClinGen CA9946336
- ClinVar RCV000997796
- ClinVar RCV003936267
- Conflicting interpretations
- Congenital heart defects, multiple types, 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.73
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital heart defects, multiple types, 5; not provided)
- EBI: Likely benign (in dbSNP:rs200383755)
- UniProt: Likely benign (in dbSNP:rs200383755)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. (PMID 22641149)