R7Q (p.Arg7Gln) variant of RB1 (P06400)
R7Q (p.Arg7Gln) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs564059250
- ClinGen CA249842023
- cosmic curated COSV57301
- ClinVar RCV001207424
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.32
- MetaLR 0.80
- MetaSVM 0.23
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)