T5I (p.Thr5Ile) variant of BAG3 (O95817)
T5I (p.Thr5Ile) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes experimental measurements and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs2493979455
- ClinGen CA378293992
- ClinVar RCV003311178
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.874