S7* (p.Ser7Ter) variant of BAG3 (O95817)
S7* (p.Ser7Ter) in BAG3 (O95817) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- rs1473083093
- ClinGen CA378294003
- ClinVar RCV000760907
- TOPMed rs1473083093
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.212