A5T (p.Ala5Thr) variant of MCM6 (Q14566)
A5T (p.Ala5Thr) in MCM6 (Q14566) 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 and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- ESP rs373740116
- TOPMed rs373740116
- gnomAD rs373740116
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available