S40W (p.Ser40Trp) variant of TBX5 (T-box transcription factor TBX5)
S40W (p.Ser40Trp) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S40W (p.Ser40Trp) variant details
- p.Ser40Trp
- rs903933027
- ClinGen CA244132190
- NCI-TCGA Cosmic COSV5985
- ClinVar RCV002346778
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.60
- PolyPhen-2 0.10
- SIFT 0.04
- MutPred 0.32
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available