G69R (p.Gly69Arg) variant of TBX20 (T-box transcription factor TBX20)
G69R (p.Gly69Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- TOPMed rs1790276091
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- AlphaMissense 0.26
- MetaLR 0.43
- MetaSVM -0.84
- CADD 15.40
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available