R33Q (p.Arg33Gln) variant of MCM2 (P49736)
R33Q (p.Arg33Gln) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs142494006
- ClinGen CA2595471
- ClinVar RCV000912247
- 1000Genomes rs142494006
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available