A5E (p.Ala5Glu) variant of MCM6 (Q14566)
A5E (p.Ala5Glu) 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.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- TOPMed rs1159523252
- gnomAD rs1159523252
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available