A37T (p.Ala37Thr) variant of F9 (Coagulation factor IX)
A37T (p.Ala37Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign; association in the context of Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs367569299
- ClinGen CA10529736
- cosmic curated COSV54381
- ClinVar RCV000990955
- Benign; association
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Benign; association (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in WARFS)
- UniProt: Pathogenic (in WARFS)
- Most common in the South Asian population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Genetic predisposition to bleeding during oral anticoagulant therapy: evidence for common founder mutations (FIXVal-10… (PMID 11307814)
- Cited in: Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional… (PMID 29450643)