S25W (p.Ser25Trp) variant of TBX20 (T-box transcription factor TBX20)
S25W (p.Ser25Trp) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar 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 0.68 / 1. The record also includes population frequency data and structural context.
S25W (p.Ser25Trp) variant details
- p.Ser25Trp
- 1000Genomes rs199991861
- ExAC rs199991861
- TOPMed rs199991861
- gnomAD rs199991861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available