P54S (p.Pro54Ser) variant of TBX20 (T-box transcription factor TBX20)
P54S (p.Pro54Ser) 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 0.45 / 1. The record also includes structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs755690552
- ClinGen CA367265360
- ClinVar RCV003575419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.06
- MetaLR 0.51
- MetaSVM -0.70
- PolyPhen-2 0.02
- SIFT 0.05
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available