E30Q (p.Glu30Gln) variant of F8 (Coagulation factor VIII)
E30Q (p.Glu30Gln) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HEMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- TOPMed rs1557287587
- gnomAD rs1557287587
- Uncertain significance
- in HEMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.73
- MetaLR 0.97
- MetaSVM 0.96
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in HEMA)
- UniProt: Uncertain significance (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available