Y256N (p.Tyr256Asn) variant of F8 (Coagulation factor VIII)
Y256N (p.Tyr256Asn) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y256N (p.Tyr256Asn) variant details
- p.Tyr256Asn
- rs1569559955
- ClinGen CA414918961
- ClinVar RCV000756117
- ClinVar RCV003330938
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available