E29K (p.Glu29Lys) variant of TBX5 (T-box transcription factor TBX5)
E29K (p.Glu29Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- TOPMed rs1224983589
- gnomAD rs1224983589
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available