P28R (p.Pro28Arg) variant of RB1 (P06400)
P28R (p.Pro28Arg) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinoblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs776175164
- ClinGen CA039558
- cosmic curated COSV99923
- ClinVar RCV000470650
- Conflicting interpretations
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.06
- CADD 14.20
- PolyPhen-2 0.08
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)