R130K (p.Arg130Lys) variant of MCM6 (Q14566)
R130K (p.Arg130Lys) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R130K (p.Arg130Lys) variant details
- p.Arg130Lys
- ExAC rs770160411
- gnomAD rs770160411
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available