P24Q (p.Pro24Gln) variant of RB1 (P06400)
P24Q (p.Pro24Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- rs1285455572
- ClinGen CA388250266
- ClinVar RCV002370838
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.29
- MetaLR 0.69
- MetaSVM -0.14
- CADD 17.90
- PolyPhen-2 0.99
- SIFT 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)