A11T (p.Ala11Thr) variant of RB1 (P06400)
A11T (p.Ala11Thr) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs587778852
- ClinGen CA388250191
- cosmic curated COSV57295
- ClinVar RCV004012320
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.08
- MetaLR 0.48
- MetaSVM -0.51
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)