P24L (p.Pro24Leu) variant of RB1 (P06400)
P24L (p.Pro24Leu) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs1285455572
- ClinGen CA388250268
- ClinVar RCV001340818
- ClinVar RCV004035952
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.30
- MetaLR 0.69
- MetaSVM 0.29
- CADD 19.70
- PolyPhen-2 0.98
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)