P28T (p.Pro28Thr) variant of RB1 (P06400)
P28T (p.Pro28Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- rs1020342293
- ClinGen CA388250285
- ClinVar RCV003338957
- TOPMed rs1020342293
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.12
- MetaLR 0.46
- MetaSVM -0.20
- CADD 5.29
- PolyPhen-2 0.03
- SIFT 0.52
- 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)