E52Q (p.Glu52Gln) variant of TBX5 (T-box transcription factor TBX5)
E52Q (p.Glu52Gln) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- gnomAD rs1208004863
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.41
- AlphaMissense 0.56
- MetaLR 0.70
- MetaSVM 0.46
- CADD 24.30
- PolyPhen-2 0.93
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available