I80M (p.Ile80Met) variant of F8 (Coagulation factor VIII)
I80M (p.Ile80Met) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I80M (p.Ile80Met) variant details
- p.Ile80Met
- 1000Genomes rs184026153
- ExAC rs184026153
- TOPMed rs184026153
- gnomAD rs184026153
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.47
- MetaLR 0.82
- MetaSVM 0.34
- CADD 5.50
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available