Q19* (p.Gln19Ter) variant of XPC (Q01831)
Q19* (p.Gln19Ter) in XPC (Q01831) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs1553608637
- ClinGen CA351543783
- ClinVar RCV000666399
- ClinVar RCV001038115
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)