E35K (p.Glu35Lys) variant of F9 (Coagulation factor IX)
E35K (p.Glu35Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs756148155
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54381
- ExAC rs756148155
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.07
- MetaLR 0.70
- MetaSVM 0.23
- PolyPhen-2 0.01
- SIFT 0.19
- MutPred 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available