K643E (p.Lys643Glu) variant of RB1 (P06400)
K643E (p.Lys643Glu) 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 0.77 / 1. The record also includes published literature and structural context.
K643E (p.Lys643Glu) variant details
- p.Lys643Glu
- rs587778866
- ClinGen CA026409
- ClinVar RCV000114682
- Ensembl rs587778866
- Pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.70
- MetaLR 0.82
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.62
- 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)