S77F (p.Ser77Phe) variant of TBX20 (T-box transcription factor TBX20)
S77F (p.Ser77Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S77F (p.Ser77Phe) variant details
- p.Ser77Phe
- rs1179432793
- ClinGen CA367265210
- ClinVar RCV004521284
- ClinVar RCV005100769
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.23
- CADD 24.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available