R134Q (p.Arg134Gln) variant of TBX20 (T-box transcription factor TBX20)
R134Q (p.Arg134Gln) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R134Q (p.Arg134Gln) variant details
- p.Arg134Gln
- TOPMed rs1790248013
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.65
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available