E111* (p.Glu111Ter) variant of XPA (P23025)
E111* (p.Glu111Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E111* (p.Glu111Ter) variant details
- p.Glu111Ter
- rs769255883
- ClinGen CA5148841
- ClinVar RCV000674100
- ClinVar RCV001194216
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)