R19L (p.Arg19Leu) variant of MCM6 (Q14566)
R19L (p.Arg19Leu) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- TOPMed rs1029805572
- gnomAD rs1029805572
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available