Y73* (p.Tyr73Ter) variant of KCNJ5 (P48544)
Y73* (p.Tyr73Ter) in KCNJ5 (P48544) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y73* (p.Tyr73Ter) variant details
- p.Tyr73Ter
- rs2135998712
- ClinGen CA383246633
- ClinVar RCV002224543
- Ensembl rs2135998712
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available