T46A (p.Thr46Ala) variant of MCM5 (P33992)
T46A (p.Thr46Ala) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- TOPMed rs1932013138
- gnomAD rs1932013138
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- MetaLR 0.05
- MetaSVM -1.09
- CADD 23.50
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available