Y32* (p.Tyr32Ter) variant of KCNJ5 (P48544)
Y32* (p.Tyr32Ter) in KCNJ5 (P48544) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y32* (p.Tyr32Ter) variant details
- p.Tyr32Ter
- rs767651199
- ClinGen CA6357819
- ClinVar RCV003105133
- ExAC rs767651199
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)