G48V (p.Gly48Val) variant of GATA5 (Transcription factor GATA-5)
G48V (p.Gly48Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- rs869025434
- ClinGen CA351932
- ClinVar RCV000208303
- ClinVar RCV002515544
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- MetaLR 0.87
- MetaSVM 0.52
- CADD 16.10
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)