P338T (p.Pro338Thr) variant of TGFB2 (P61812)
P338T (p.Pro338Thr) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
P338T (p.Pro338Thr) variant details
- p.Pro338Thr
- rs2102630084
- ClinGen CA344727569
- ClinVar RCV001731121
- Ensembl rs2102630084
- Pathogenic
- Atrial septal defect 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- MutPred 0.85
- ClinVar: Pathogenic (Atrial septal defect 1)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Structural context available