R33P (p.Arg33Pro) variant of MCM2 (P49736)
R33P (p.Arg33Pro) 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 0.36 / 1. The record also includes population frequency data and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- 1000Genomes rs142494006
- ExAC rs142494006
- TOPMed rs142494006
- gnomAD rs142494006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available