L400P (p.Leu400Pro) variant of RB1 (P06400)
L400P (p.Leu400Pro) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L400P (p.Leu400Pro) variant details
- p.Leu400Pro
- rs2138131298
- ClinGen CA388161647
- ClinVar RCV001378940
- Ensembl rs2138131298
- Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.93
- MetaLR 0.89
- MetaSVM 1.00
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinoblastoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)