W12* (p.Trp12Ter) variant of MUTYH (Adenine DNA glycosylase)
W12* (p.Trp12Ter) in MUTYH (Adenine DNA glycosylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs767402084
- ClinGen CA340137829
- ClinVar RCV000569145
- ClinVar RCV001853721
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)