P21L (p.Pro21Leu) variant of RB1 (P06400)
P21L (p.Pro21Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinoblastoma; Malignant tumor of urinary bladder; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs1444353743
- ClinGen CA388250249
- ClinVar RCV000698668
- ClinVar RCV002360783
- Conflicting interpretations
- Retinoblastoma; Malignant tumor of urinary bladder; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.26
- MetaLR 0.65
- MetaSVM 0.31
- CADD 21.00
- PolyPhen-2 0.98
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Retinoblastoma; Malignant tumor of urinary bladder; Hereditary c)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)