I7F (p.Ile7Phe) variant of F9 (Coagulation factor IX)
I7F (p.Ile7Phe) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I7F (p.Ile7Phe) variant details
- p.Ile7Phe
- rs150190385
- ClinGen CA10529708
- cosmic curated COSV54381
- ClinVar RCV000291239
- Benign
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.58
- MetaLR 0.58
- MetaSVM -0.28
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Benign (Hereditary factor IX deficiency disease)
- EBI: Benign (in dbSNP:rs150190385)
- UniProt: Benign (in dbSNP:rs150190385)
- Most common in the 1KG:GBR population (allele frequency 0.0079)
- Structural context available
- Cited in: Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the… (PMID 2773937)
- Cited in: Hemophilia B. (PMID 20301668)