D18H (p.Asp18His) variant of TBX5 (T-box transcription factor TBX5)
D18H (p.Asp18His) in TBX5 (T-box transcription factor TBX5) is a missense change. 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.
D18H (p.Asp18His) variant details
- p.Asp18His
- TOPMed rs1196700597
- gnomAD rs1196700597
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.22
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available