E27K (p.Glu27Lys) variant of F9 (Coagulation factor IX)
E27K (p.Glu27Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs387906475
- ClinGen CA255313
- ClinVar RCV000011316
- ClinVar RCV004689413
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.60
- PolyPhen-2 0.04
- SIFT 0.20
- MutPred 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B. (PMID 2929599)
- Cited in: Hemophilia B. (PMID 20301668)