Q23* (p.Gln23Ter) variant of PCCA (P05165)
Q23* (p.Gln23Ter) in PCCA (P05165) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- TOPMed rs1418687702
- gnomAD rs1418687702
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available