S60I (p.Ser60Ile) variant of TBX20 (T-box transcription factor TBX20)
S60I (p.Ser60Ile) 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 0.45 / 1. The record also includes structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- rs1195753406
- ClinGen CA367265322
- ClinVar RCV001871024
- ClinVar RCV003348563
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.13
- MetaLR 0.49
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.31
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available