S127T (p.Ser127Thr) variant of RB1 (P06400)
S127T (p.Ser127Thr) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
S127T (p.Ser127Thr) variant details
- p.Ser127Thr
- rs1131690843
- ClinGen CA388252576
- ClinVar RCV000492301
- ClinVar RCV000814584
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.54
- MetaLR 0.50
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)