V127L (p.Val127Leu) variant of MCM3 (P25205)
V127L (p.Val127Leu) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V127L (p.Val127Leu) variant details
- p.Val127Leu
- 1000Genomes rs573520418
- ExAC rs573520418
- TOPMed rs573520418
- gnomAD rs573520418
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 16.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available