L400V (p.Leu400Val) variant of RB1 (P06400)
L400V (p.Leu400Val) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L400V (p.Leu400Val) variant details
- p.Leu400Val
- rs535576919
- ClinGen CA388161643
- ClinVar RCV000632945
- ClinVar RCV001010249
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.85
- MetaLR 0.84
- MetaSVM 0.84
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Retinobla)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)