P101A (p.Pro101Ala) variant of F9 (Coagulation factor IX)
P101A (p.Pro101Ala) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P101A (p.Pro101Ala) variant details
- p.Pro101Ala
- rs137852232
- ClinGen CA255326
- ClinVar RCV000011324
- ClinVar RCV001810845
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.08
- CADD 24.10
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Molecular pathology of haemophilia B. (PMID 2743975)
- Cited in: Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain. (PMID 3392024)