E31K (p.Glu31Lys) variant of TBX20 (T-box transcription factor TBX20)
E31K (p.Glu31Lys) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD rs1388738405
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available