R55H (p.Arg55His) variant of MCM6 (Q14566)
R55H (p.Arg55His) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- ExAC rs763275628
- TOPMed rs763275628
- gnomAD rs763275628
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available