E737D (p.Glu737Asp) variant of RB1 (P06400)
E737D (p.Glu737Asp) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E737D (p.Glu737Asp) variant details
- p.Glu737Asp
- rs587776787
- ClinGen CA388167239
- ClinVar RCV000632924
- Ensembl rs587776787
- Pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.24
- MetaLR 0.71
- MetaSVM 0.11
- PolyPhen-2 0.02
- SIFT 0.04
- EVE 0.54
- ClinVar: Pathogenic (Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)