E81V (p.Glu81Val) variant of MCM6 (Q14566)
E81V (p.Glu81Val) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E81V (p.Glu81Val) variant details
- p.Glu81Val
- TOPMed rs752176648
- gnomAD rs752176648
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.37
- CADD 28.90
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available