S23* (p.Ser23Ter) variant of XPA (P23025)
S23* (p.Ser23Ter) in XPA (P23025) 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 0.62 / 1. The record also includes population frequency data and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- TOPMed rs1179193179
- gnomAD rs1179193179
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available