S40* (p.Ser40Ter) variant of TBX5 (T-box transcription factor TBX5)
S40* (p.Ser40Ter) in TBX5 (T-box transcription factor TBX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- rs903933027
- ClinGen CA386863471
- ClinVar RCV000782330
- Ensembl rs903933027
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.60
- CADD 38.00
- PolyPhen-2 0.10
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)