I130L (p.Ile130Leu) variant of MCM3 (P25205)
I130L (p.Ile130Leu) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
I130L (p.Ile130Leu) variant details
- p.Ile130Leu
- TOPMed rs1463282001
- gnomAD rs1463282001
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)