R19H (p.Arg19His) variant of MCM6 (Q14566)
R19H (p.Arg19His) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- TOPMed rs1029805572
- gnomAD rs1029805572
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- CADD 24.60
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available