L662P (p.Leu662Pro) variant of RB1 (P06400)
L662P (p.Leu662Pro) 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 record also includes published literature and structural context.
L662P (p.Leu662Pro) variant details
- p.Leu662Pro
- rs2542368024
- ClinVar RCV004557130
- UniProt VAR 005583
- Likely pathogenic
- Retinoblastoma
- Missense
- ClinVar: Likely pathogenic (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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)