Q37K (p.Gln37Lys) variant of MUTYH (Adenine DNA glycosylase)
Q37K (p.Gln37Lys) 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 0.44 / 1. The record also includes published literature and structural context.
Q37K (p.Gln37Lys) variant details
- p.Gln37Lys
- rs1270853129
- ClinGen CA340137107
- ClinVar RCV000575333
- gnomAD rs1270853129
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.06
- MetaLR 0.48
- MetaSVM -0.53
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)