R92Q (p.Arg92Gln) variant of MCM6 (Q14566)
R92Q (p.Arg92Gln) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- rs61750436
- ClinGen CA1889320
- ClinVar RCV003954725
- ClinVar RCV005426287
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.30
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)