E17A (p.Glu17Ala) variant of MCM6 (Q14566)
E17A (p.Glu17Ala) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E17A (p.Glu17Ala) variant details
- p.Glu17Ala
- TOPMed rs1441410836
- gnomAD rs1441410836
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available