S13F (p.Ser13Phe) variant of TBX20 (T-box transcription factor TBX20)
S13F (p.Ser13Phe) 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 0.66 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- rs1363662149
- TOPMed rs1363662149
- gnomAD rs1363662149
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available