S73R (p.Ser73Arg) variant of TBX20 (T-box transcription factor TBX20)
S73R (p.Ser73Arg) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S73R (p.Ser73Arg) variant details
- p.Ser73Arg
- 1000Genomes rs559991983
- ExAC rs559991983
- gnomAD rs559991983
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available