R136H (p.Arg136His) variant of MCM6 (Q14566)
R136H (p.Arg136His) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of MCM6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs201215953
- ClinGen CA1889275
- ClinVar RCV003932137
- 1000Genomes rs201215953
- Likely benign
- MCM6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.25
- CADD 25.80
- PolyPhen-2 0.78
- SIFT 0.04
- ClinVar: Likely benign (MCM6-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available