Q33H (p.Gln33His) variant of MUTYH (Adenine DNA glycosylase)
Q33H (p.Gln33His) 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 0.46 / 1. The record also includes published literature and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- rs2149188194
- Ensembl rs2149188194
- ClinGen CA340137129
- ClinVar RCV003854537
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.13
- MetaLR 0.53
- MetaSVM -0.57
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)