Q11* (p.Gln11Ter) variant of RAD51C (O43502)
Q11* (p.Gln11Ter) in RAD51C (O43502) 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 0.37 / 1. The record also includes published literature and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- rs1567782755
- ClinGen CA400336417
- ClinVar RCV000698142
- Ensembl rs1567782755
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.91
- PolyPhen-2 0.85
- SIFT 0.03
- MutPred 0.41
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)