A14L (p.Ala14Leu) variant of RB1 (P06400)
A14L (p.Ala14Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinoblastoma; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
A14L (p.Ala14Leu) variant details
- p.Ala14Leu
- rs2542093473
- ClinGen CA2580087718
- ClinVar RCV003171434
- ClinVar RCV006473828
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)