E52D (p.Glu52Asp) variant of TBX5 (T-box transcription factor TBX5)
E52D (p.Glu52Asp) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD rs771883815
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.32
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available