I17M (p.Ile17Met) variant of F9 (Coagulation factor IX)
I17M (p.Ile17Met) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in HEMB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I17M (p.Ile17Met) variant details
- p.Ile17Met
- ExAC rs774612303
- TOPMed rs774612303
- gnomAD rs774612303
- Benign
- in HEMB
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.35
- MetaLR 0.63
- MetaSVM -0.21
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.16
- EBI: Benign (in HEMB)
- UniProt: Benign (in HEMB)
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available