Q3R (p.Gln3Arg) variant of GATA5 (Transcription factor GATA-5)
Q3R (p.Gln3Arg) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- rs113068438
- ClinGen CA346355
- ClinVar RCV000157239
- ClinVar RCV001689707
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.56
- MetaLR 0.91
- MetaSVM 0.70
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign (in dbSNP:rs113068438)
- UniProt: Benign (in dbSNP:rs113068438)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. (PMID 22641149)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)