Q10R (p.Gln10Arg) variant of TBX20 (T-box transcription factor TBX20)
Q10R (p.Gln10Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs2546999480
- ClinGen CA367265658
- ClinVar RCV002927434
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.51
- CADD 25.00
- PolyPhen-2 0.78
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available