E96D (p.Glu96Asp) variant of TBX20 (T-box transcription factor TBX20)
E96D (p.Glu96Asp) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
E96D (p.Glu96Asp) variant details
- p.Glu96Asp
- ExAC rs745512315
- gnomAD rs745512315
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available