S127I (p.Ser127Ile) variant of RB1 (P06400)
S127I (p.Ser127Ile) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
S127I (p.Ser127Ile) variant details
- p.Ser127Ile
- rs1131690843
- ClinGen CA388252574
- NCI-TCGA Cosmic COSV5729
- NCI-TCGA Cosmic COSV5730
- Likely pathogenic
- 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: Likely pathogenic (Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)