Q85* (p.Gln85Ter) variant of XPA (P23025)
Q85* (p.Gln85Ter) in XPA (P23025) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q85* (p.Gln85Ter) variant details
- p.Gln85Ter
- rs765361885
- ClinGen CA374188027
- ClinVar RCV001555786
- ExAC rs765361885
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available