E122* (p.Glu122Ter) variant of PYGM (P11217)
E122* (p.Glu122Ter) in PYGM (P11217) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E122* (p.Glu122Ter) variant details
- p.Glu122Ter
- gnomAD rs1319212857
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available