R19* (p.Arg19Ter) variant of MUTYH (Adenine DNA glycosylase)
R19* (p.Arg19Ter) in MUTYH (Adenine DNA glycosylase) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs587780088
- ClinGen CA013854
- cosmic curated COSV62743
- ClinVar RCV000115767
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.27
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)