V190A (p.Val190Ala) variant of GATA5 (Transcription factor GATA-5)
V190A (p.Val190Ala) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V190A (p.Val190Ala) variant details
- p.Val190Ala
- rs782051102
- ClinGen CA9946280
- ClinVar RCV000590860
- UniProt VAR 080606
- Pathogenic
- Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Congenital heart defects, multiple types, 5)
- EBI: Pathogenic (in CHTD5)
- UniProt: Pathogenic (in CHTD5)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. (PMID 23031282)
- Cited in: Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. (PMID 22483626)