I48T (p.Ile48Thr) variant of MCM3 (P25205)
I48T (p.Ile48Thr) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- TOPMed rs1299870343
- gnomAD rs1299870343
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.90
- PolyPhen-2 0.55
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)