T67P (p.Thr67Pro) variant of GATA5 (Transcription factor GATA-5)
T67P (p.Thr67Pro) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T67P (p.Thr67Pro) variant details
- p.Thr67Pro
- rs6142775
- ClinGen CA9946328
- ClinVar RCV001573831
- ClinVar RCV001724365
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.29
- MetaLR 0.01
- MetaSVM -0.69
- CADD 4.37
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs6142775)
- UniProt: Benign (in dbSNP:rs6142775)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. (PMID 22641149)