E37* (p.Glu37Ter) variant of PCCB (P05166)
E37* (p.Glu37Ter) in PCCB (P05166) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E37* (p.Glu37Ter) variant details
- p.Glu37Ter
- rs1431643380
- gnomAD 3-136251263-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.39
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available