A357S (p.Ala357Ser) variant of TBX3 (T-box transcription factor TBX3)
A357S (p.Ala357Ser) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
A357S (p.Ala357Ser) variant details
- p.Ala357Ser
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- ESP rs140580685
- ExAC rs140580685
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.16
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.01
- CADD 15.10
- PolyPhen-2 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)