K47Q (p.Lys47Gln) variant of MUTYH (Adenine DNA glycosylase)
K47Q (p.Lys47Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- rs1645561128
- ClinGen CA340136986
- ClinVar RCV001212710
- ClinVar RCV005672609
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM -0.02
- PolyPhen-2 0.31
- SIFT 0.15
- MutPred 0.17
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- 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)