M54I (p.Met54Ile) variant of MUTYH (Adenine DNA glycosylase)
M54I (p.Met54Ile) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome; Gastr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
M54I (p.Met54Ile) variant details
- p.Met54Ile
- rs2524291407
- ClinGen CA340136820
- ClinVar RCV002414772
- ClinVar RCV003097168
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome; Gastr
- Missense
- Variant Prioritization Score for Impact Estimate 0.0554
- CADD 0.02
- PolyPhen-2 0.05
- SIFT 0.24
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)