S52* (p.Ser52Ter) variant of XPC (Q01831)
S52* (p.Ser52Ter) in XPC (Q01831) 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 0.39 / 1. The record also includes published literature and structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- rs1696675107
- ClinVar RCV004573888
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.81
- PolyPhen-2 0.12
- SIFT 0.00
- EVE 0.44
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)