R30Q (p.Arg30Gln) variant of MCM2 (P49736)
R30Q (p.Arg30Gln) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- gnomAD rs1183303134
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available