P26S (p.Pro26Ser) variant of RB1 (P06400)
P26S (p.Pro26Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs2138027626
- ClinGen CA388250275
- ClinVar RCV002400583
- ClinVar RCV003099720
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.25
- MetaLR 0.31
- MetaSVM -0.85
- CADD 6.33
- PolyPhen-2 0.03
- SIFT 0.85
- ClinVar: Uncertain significance (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)