D96H (p.Asp96His) variant of F5 (Coagulation factor V)
D96H (p.Asp96His) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
D96H (p.Asp96His) variant details
- p.Asp96His
- rs747215273
- ClinGen CA1234662
- ClinVar RCV003596847
- ExAC rs747215273
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.98
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Congenital factor V deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available