V654L (p.Val654Leu) variant of RB1 (P06400)
V654L (p.Val654Leu) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
V654L (p.Val654Leu) variant details
- p.Val654Leu
- rs483352690
- ClinGen CA16614062
- NCI-TCGA Cosmic COSV5730
- Pathogenic/Likely pathogenic
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.63
- MetaLR 0.89
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.71
- ClinVar: Pathogenic/Likely pathogenic (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)