E93V (p.Glu93Val) variant of F5 (Coagulation factor V)
E93V (p.Glu93Val) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E93V (p.Glu93Val) variant details
- p.Glu93Val
- gnomAD rs1437813640
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.87
- AlphaMissense 0.21
- MetaLR 0.04
- MetaSVM -0.88
- CADD 32.00
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available