S136F (p.Ser136Phe) variant of TBX20 (T-box transcription factor TBX20)
S136F (p.Ser136Phe) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
S136F (p.Ser136Phe) variant details
- p.Ser136Phe
- rs2128715964
- ClinGen CA367264808
- ClinVar RCV001894446
- Ensembl rs2128715964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.90
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available