P44S (p.Pro44Ser) variant of F9 (Coagulation factor IX)
P44S (p.Pro44Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs776894974
- ClinGen CA10529740
- ClinVar RCV001403195
- ClinVar RCV001831431
- Likely benign
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- MetaLR 0.51
- MetaSVM -0.61
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Likely benign (Hereditary factor IX deficiency disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)