E19V (p.Glu19Val) variant of RB1 (P06400)
E19V (p.Glu19Val) 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 0.52 / 1. The record also includes published literature and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- rs2138027431
- ClinGen CA388250237
- ClinVar RCV002302149
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.06
- MetaLR 0.64
- MetaSVM -0.25
- PolyPhen-2 0.88
- SIFT 0.43
- MutPred 0.28
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)