P21R (p.Pro21Arg) variant of RB1 (P06400)
P21R (p.Pro21Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs1469887040
- ClinGen CA609859321
- ClinVar RCV003301741
- ClinVar RCV006472278
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.22
- MetaLR 0.60
- MetaSVM -0.31
- CADD 20.60
- PolyPhen-2 0.99
- SIFT 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)