R46K (p.Arg46Lys) variant of RB1 (P06400)
R46K (p.Arg46Lys) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- rs2138028088
- ClinGen CA388250404
- cosmic curated COSV57298
- ClinVar RCV002381134
- Pathogenic
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.54
- AlphaMissense 0.15
- MetaLR 0.60
- MetaSVM -0.02
- CADD 25.30
- PolyPhen-2 0.03
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)