M54V (p.Met54Val) variant of MUTYH (Adenine DNA glycosylase)
M54V (p.Met54Val) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M54V (p.Met54Val) variant details
- p.Met54Val
- rs1645396759
- ClinGen CA340136830
- ClinVar RCV001184675
- Ensembl rs1645396759
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 2.84
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)