S567L (p.Ser567Leu) variant of RB1 (P06400)
S567L (p.Ser567Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
S567L (p.Ser567Leu) variant details
- p.Ser567Leu
- rs137853292
- ClinGen CA026396
- NCI-TCGA Cosmic COSV5729
- NCI-TCGA Cosmic COSV5730
- Likely pathogenic
- not provided; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (not provided; Retinoblastoma)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Structural context available
- Cited in: Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. (PMID 10671068)
- Cited in: Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. (PMID 2594029)