P6L (p.Pro6Leu) variant of RB1 (P06400)
P6L (p.Pro6Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Malignant tumor of urinary bladder; Hereditary cancer-predisposing syndrome; Ret. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs755482658
- ClinGen CA032568
- ClinVar RCV002407875
- ClinVar RCV003626773
- Conflicting interpretations
- Malignant tumor of urinary bladder; Hereditary cancer-predisposing syndrome; Ret
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- AlphaMissense 0.19
- MetaLR 0.66
- MetaSVM 0.07
- CADD 20.40
- PolyPhen-2 0.70
- ClinVar: Conflicting classifications of pathogenicity (Malignant tumor of urinary bladder; Hereditary cancer-predisposi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)