R46L (p.Arg46Leu) variant of MCM3 (P25205)
R46L (p.Arg46Leu) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- ExAC rs781756081
- gnomAD rs781756081
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)