T5I (p.Thr5Ile) variant of RB1 (P06400)
T5I (p.Thr5Ile) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs1265159988
- ClinGen CA388250161
- ClinVar RCV000809422
- ClinVar RCV002390624
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- MetaLR 0.50
- MetaSVM -0.45
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)