Q10H (p.Gln10His) variant of TBX20 (T-box transcription factor TBX20)
Q10H (p.Gln10His) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- 1000Genomes rs200480759
- ExAC rs200480759
- TOPMed rs200480759
- gnomAD rs200480759
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available