E52V (p.Glu52Val) variant of MCM6 (Q14566)
E52V (p.Glu52Val) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E52V (p.Glu52Val) variant details
- p.Glu52Val
- TOPMed rs1680226213
- gnomAD rs1680226213
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.32
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available