S888N (p.Ser888Asn) variant of RB1 (P06400)
S888N (p.Ser888Asn) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
S888N (p.Ser888Asn) variant details
- p.Ser888Asn
- rs1555295354
- ClinGen CA388157668
- ClinVar RCV000632966
- Ensembl rs1555295354
- Pathogenic/Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.26
- MetaLR 0.67
- MetaSVM 0.38
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.35
- ClinVar: Pathogenic/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)