S11T (p.Ser11Thr) variant of F9 (Coagulation factor IX)
S11T (p.Ser11Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- rs387906480
- ClinGen CA255447
- ClinVar RCV000011401
- TOPMed rs387906480
- Conflicting interpretations
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- MetaLR 0.53
- MetaSVM -0.54
- CADD 2.08
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Hereditary factor IX deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. (PMID 1598234)
- Cited in: Why does the human factor IX gene have a G + C content of 40%? (PMID 1897528)