Q33P (p.Gln33Pro) variant of MUTYH (Adenine DNA glycosylase)
Q33P (p.Gln33Pro) 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 not specified; not provided; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q33P (p.Gln33Pro) variant details
- p.Gln33Pro
- rs863224701
- ClinGen CA336648
- ClinVar RCV000196716
- ClinVar RCV000773663
- Uncertain significance
- not specified; not provided; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.06
- MetaLR 0.59
- MetaSVM -0.49
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.11
- ClinVar: Uncertain significance (not specified; not provided; Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)