S40L (p.Ser40Leu) variant of TBX5 (T-box transcription factor TBX5)
S40L (p.Ser40Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- NCI-TCGA Cosmic COSV5985
- cosmic curated COSV59858
- Ensembl rs903933027
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available