T12S (p.Thr12Ser) variant of RB1 (P06400)
T12S (p.Thr12Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- rs1566174063
- ClinGen CA388250196
- ClinVar RCV000703761
- ClinVar RCV001020458
- Likely benign
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- MetaLR 0.47
- MetaSVM -0.59
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)