R30G (p.Arg30Gly) variant of MCM2 (P49736)
R30G (p.Arg30Gly) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- TOPMed rs1181496683
- gnomAD rs1181496683
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available