F8S (p.Phe8Ser) variant of TBX5 (T-box transcription factor TBX5)
F8S (p.Phe8Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar 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.
F8S (p.Phe8Ser) variant details
- p.Phe8Ser
- ExAC rs766170094
- TOPMed rs766170094
- gnomAD rs766170094
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- CADD 26.50
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available