R92W (p.Arg92Trp) variant of MCM6 (Q14566)
R92W (p.Arg92Trp) 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 0.56 / 1. The record also includes population frequency data and structural context.
R92W (p.Arg92Trp) variant details
- p.Arg92Trp
- rs61752701
- ClinGen CA1889321
- ClinVar RCV003911728
- 1000Genomes rs61752701
- Likely benign
- MCM6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Likely benign (MCM6-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available