R124Q (p.Arg124Gln) variant of MCM6 (Q14566)
R124Q (p.Arg124Gln) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R124Q (p.Arg124Gln) variant details
- p.Arg124Gln
- ExAC rs759630219
- gnomAD rs759630219
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.69
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available