M65T (p.Met65Thr) variant of F9 (Coagulation factor IX)
M65T (p.Met65Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M65T (p.Met65Thr) variant details
- p.Met65Thr
- rs1447797624
- ClinGen CA414435964
- ClinVar RCV003121521
- TOPMed rs1447797624
- Uncertain significance
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.32
- MetaLR 0.90
- MetaSVM 0.64
- CADD 5.30
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)