C123W (p.Cys123Trp) variant of MCM3 (P25205)
C123W (p.Cys123Trp) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
C123W (p.Cys123Trp) variant details
- p.Cys123Trp
- 1000Genomes rs559245707
- ExAC rs559245707
- gnomAD rs559245707
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.0063)