P54T (p.Pro54Thr) variant of TBX20 (T-box transcription factor TBX20)
P54T (p.Pro54Thr) 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 0.39 / 1. The record also includes population frequency data and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- rs755690552
- ClinGen CA4217565
- ClinVar RCV002995081
- ExAC rs755690552
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- AlphaMissense 0.06
- MetaLR 0.51
- MetaSVM -0.70
- CADD 19.50
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available