T342M (p.Thr342Met) variant of F9 (Coagulation factor IX)
T342M (p.Thr342Met) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T342M (p.Thr342Met) variant details
- p.Thr342Met
- rs137852254
- ClinGen CA255381
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54382
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.80
- AlphaMissense 0.19
- MetaLR 0.76
- MetaSVM 0.67
- CADD 23.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. (PMID 12604421)
- Cited in: T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor… (PMID 1864609)