R106W (p.Arg106Trp) variant of MUTYH (Adenine DNA glycosylase)
R106W (p.Arg106Trp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R106W (p.Arg106Trp) variant details
- p.Arg106Trp
- rs765123255
- ClinGen CA013370
- cosmic curated COSV10942
- ClinVar RCV000162761
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.30
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Familial)
- 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)