R18Q (p.Arg18Gln) variant of MCM2 (P49736)
R18Q (p.Arg18Gln) in MCM2 (P49736) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- 1000Genomes rs185298481
- ExAC rs185298481
- TOPMed rs185298481
- gnomAD rs185298481
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.04
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available