Y67* (p.Tyr67Ter) variant of SLC12A3 (P55017)
Y67* (p.Tyr67Ter) in SLC12A3 (P55017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y67* (p.Tyr67Ter) variant details
- p.Tyr67Ter
- rs1227599828
- ClinGen CA395977255
- ClinVar RCV002245168
- gnomAD rs1227599828
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)