D86N (p.Asp86Asn) variant of F10 (Coagulation factor X)
D86N (p.Asp86Asn) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs2503094343
- ClinGen CA388788068
- ClinVar RCV003445227
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.73
- CADD 39.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available