C712R (p.Cys712Arg) variant of RB1 (P06400)
C712R (p.Cys712Arg) 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 retinoblastoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
C712R (p.Cys712Arg) variant details
- p.Cys712Arg
- rs137853296
- ClinGen CA026423
- ClinVar RCV000013968
- ClinVar RCV000492516
- Pathogenic/Likely pathogenic
- Hereditary retinoblastoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.94
- MetaLR 0.86
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (Hereditary retinoblastoma; Hereditary cancer-predisposing syndro)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Structural context available
- Cited in: Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. (PMID 10486322)
- Cited in: Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. (PMID 10671068)