R33W (p.Arg33Trp) variant of MCM2 (P49736)
R33W (p.Arg33Trp) in MCM2 (P49736) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- ESP rs144051770
- ExAC rs144051770
- TOPMed rs144051770
- gnomAD rs144051770
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.00
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available