T9M (p.Thr9Met) variant of RB1 (P06400)
T9M (p.Thr9Met) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- rs1952051803
- ClinGen CA388250183
- ClinVar RCV001317389
- ClinVar RCV005470740
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- MetaLR 0.51
- MetaSVM -0.43
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)