E57K (p.Glu57Lys) variant of TBX20 (T-box transcription factor TBX20)
E57K (p.Glu57Lys) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- TOPMed rs1790277226
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available