E32* (p.Glu32Ter) variant of XPC (Q01831)
E32* (p.Glu32Ter) 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 0.34 / 1. The record also includes structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- rs768907247
- ClinGen CA351543612
- ClinVar RCV003578828
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available