Y176C (p.Tyr176Cys) variant of MUTYH (Adenine DNA glycosylase)
Y176C (p.Tyr176Cys) 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 Inherited polyposis and early onset colorectal cancer - germline testing; Dysemb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y176C (p.Tyr176Cys) variant details
- p.Tyr176Cys
- rs34612342
- ClinGen CA011761
- cosmic curated COSV58344
- ClinVar RCV000005612
- Pathogenic/Likely pathogenic
- Inherited polyposis and early onset colorectal cancer - germline testing; Dysemb
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.75
- MetaLR 0.88
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Inherited polyposis and early onset colorectal cancer - germline)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. (PMID 11818965)
- Cited in: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. (PMID 12606733)