D701N (p.Asp701Asn) variant of RB1 (P06400)
D701N (p.Asp701Asn) 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 0.94 / 1. The record also includes published literature and structural context.
D701N (p.Asp701Asn) variant details
- p.Asp701Asn
- rs587778859
- ClinGen CA026421
- ClinVar RCV000114686
- Ensembl rs587778859
- Pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)