Q16H (p.Gln16His) variant of MCM2 (P49736)
Q16H (p.Gln16His) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- rs1444746944
- ClinGen CA354380191
- ClinVar RCV002029893
- TOPMed rs1444746944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.35
- MutPred 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available