K48* (p.Lys48Ter) variant of KCNJ5 (P48544)
K48* (p.Lys48Ter) in KCNJ5 (P48544) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K48* (p.Lys48Ter) variant details
- p.Lys48Ter
- TOPMed rs1303727981
- gnomAD rs1303727981
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available