Q37R (p.Gln37Arg) variant of F8 (Coagulation factor VIII)
Q37R (p.Gln37Arg) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q37R (p.Gln37Arg) variant details
- p.Gln37Arg
- ExAC rs782650023
- gnomAD rs782650023
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.34
- MetaLR 0.86
- MetaSVM 0.28
- CADD 3.60
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available