Y6H (p.Tyr6His) variant of APC (Adenomatous polyposis coli protein)
Y6H (p.Tyr6His) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes published literature and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- rs2149737356
- ClinGen CA16021366
- ClinVar RCV003585134
- ClinVar RCV004574142
- Uncertain significance
- Familial adenomatous polyposis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)