H81Q (p.His81Gln) variant of GATA5 (Transcription factor GATA-5)
H81Q (p.His81Gln) 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 0.50 / 1. The record also includes population frequency data and structural context.
H81Q (p.His81Gln) variant details
- p.His81Gln
- rs1034727380
- TOPMed rs1034727380
- ClinGen CA409557228
- ClinVar RCV002671840
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- MetaLR 0.87
- MetaSVM 0.57
- CADD 22.80
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available