Q29H (p.Gln29His) variant of CHEK2 (O96017)
Q29H (p.Gln29His) in CHEK2 (O96017) 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 0.45 / 1. The record also includes published literature and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- rs951525447
- ClinGen CA411091593
- ClinVar RCV004517315
- Ensembl rs951525447
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.67
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely 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)