D3E (p.Asp3Glu) variant of TBX5 (T-box transcription factor TBX5)
D3E (p.Asp3Glu) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- Ensembl rs774750288
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.60
- SIFT 0.25
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available