Q54E (p.Gln54Glu) variant of GATA5 (Transcription factor GATA-5)
Q54E (p.Gln54Glu) 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 0.58 / 1. The record also includes population frequency data and structural context.
Q54E (p.Gln54Glu) variant details
- p.Gln54Glu
- rs2516447367
- ClinGen CA409557627
- ClinVar RCV003671040
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.43
- MetaLR 0.95
- MetaSVM 0.97
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available