C706Y (p.Cys706Tyr) variant of RB1 (P06400)
C706Y (p.Cys706Tyr) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C706Y (p.Cys706Tyr) variant details
- p.Cys706Tyr
- rs121913295
- ClinGen CA388167022
- ClinVar RCV003516356
- UniProt VAR 005586
- Pathogenic/Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.06
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Retinoblastoma)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Population evidence available
- Structural context available
- Cited in: Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary… (PMID 8118465)
- Cited in: Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. (PMID 10671068)