H733Y (p.His733Tyr) variant of RB1 (P06400)
H733Y (p.His733Tyr) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
H733Y (p.His733Tyr) variant details
- p.His733Tyr
- rs587778835
- ClinGen CA026427
- ClinVar RCV000114689
- Ensembl rs587778835
- Pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM 0.42
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.31
- ClinVar: 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)