I136T (p.Ile136Thr) variant of F9 (Coagulation factor IX)
I136T (p.Ile136Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
I136T (p.Ile136Thr) variant details
- p.Ile136Thr
- rs1603265481
- ClinGen CA414438824
- ClinVar RCV000851938
- ClinVar RCV004812364
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.13
- MetaLR 0.66
- MetaSVM 0.02
- PolyPhen-2 0.01
- SIFT 0.18
- EVE 0.10
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)