L657P (p.Leu657Pro) variant of RB1 (P06400)
L657P (p.Leu657Pro) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L657P (p.Leu657Pro) variant details
- p.Leu657Pro
- rs562956970
- ClinVar RCV004557129
- UniProt VAR 010050
- Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.81
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Retinoblastoma)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Structural context available
- Cited in: Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to… (PMID 8776589)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)