A11S (p.Ala11Ser) variant of RB1 (P06400)
A11S (p.Ala11Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs587778852
- ClinGen CA026450
- ClinVar RCV000114708
- Ensembl rs587778852
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.06
- MetaLR 0.46
- MetaSVM -0.65
- CADD 14.30
- PolyPhen-2 0.05
- SIFT 0.50
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)