Y53* (p.Tyr53Ter) variant of KCNJ5 (P48544)
Y53* (p.Tyr53Ter) in KCNJ5 (P48544) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y53* (p.Tyr53Ter) variant details
- p.Tyr53Ter
- gnomAD rs1340787109
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 36.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available