Q31* (p.Gln31Ter) variant of PCCB (P05166)
Q31* (p.Gln31Ter) in PCCB (P05166) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- gnomAD 3-136250466-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available