P3L (p.Pro3Leu) variant of RB1 (P06400)
P3L (p.Pro3Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant tumor of urinary bladder; Retinoblastoma; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs2138026992
- ClinGen CA388250148
- ClinVar RCV003471812
- ClinVar RCV003779096
- Uncertain significance
- Malignant tumor of urinary bladder; Retinoblastoma; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- MetaLR 0.79
- MetaSVM 0.70
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Malignant tumor of urinary bladder; Retinoblastoma; Hereditary c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)