S6F (p.Ser6Phe) variant of TBX20 (T-box transcription factor TBX20)
S6F (p.Ser6Phe) 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 0.59 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs890314176
- ClinGen CA156930198
- ClinVar RCV002407876
- TOPMed rs890314176
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.48
- CADD 25.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available