P27R (p.Pro27Arg) variant of RB1 (P06400)
P27R (p.Pro27Arg) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs925399787
- ClinGen CA249842029
- ClinVar RCV001213879
- ClinVar RCV002256701
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- MetaLR 0.49
- MetaSVM -0.32
- CADD 14.30
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)