A11G (p.Ala11Gly) variant of RB1 (P06400)
A11G (p.Ala11Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- rs899323337
- ClinGen CA249842025
- ClinVar RCV000632957
- ClinVar RCV002325216
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- MetaLR 0.50
- MetaSVM -0.58
- CADD 11.90
- PolyPhen-2 0.04
- SIFT 0.67
- ClinVar: Uncertain significance (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)