E72Q (p.Glu72Gln) variant of F8 (Coagulation factor VIII)
E72Q (p.Glu72Gln) in F8 (Coagulation factor VIII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in HEMA. The record also includes variant effect predictions and structural context.
E72Q (p.Glu72Gln) variant details
- p.Glu72Gln
- NCI-TCGA Cosmic COSV6427
- Variant assessed as somatic; moderate impact.
- in HEMA
- Missense
- MetaLR 0.97
- MetaSVM 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact. (in HEMA)
- Structural context available