D322N (p.Asp322Asn) variant of F10 (Coagulation factor X)
D322N (p.Asp322Asn) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D322N (p.Asp322Asn) variant details
- p.Asp322Asn
- rs121964942
- UniProt VAR 065439
- Ensembl rs121964942
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity. (PMID 25313940)
- Cited in: Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. (PMID 8845463)