Q23* (p.Gln23Ter) variant of RYR2 (Ryanodine receptor 2)
Q23* (p.Gln23Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available