S2030N (p.Ser2030Asn) variant of F8 (Coagulation factor VIII)
S2030N (p.Ser2030Asn) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect; Inborn genetic diseases; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S2030N (p.Ser2030Asn) variant details
- p.Ser2030Asn
- rs369414658
- ClinGen CA10567911
- ClinVar RCV000851606
- ClinVar RCV001267618
- Pathogenic/Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Inborn genetic diseases; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.57
- MetaLR 0.96
- MetaSVM 1.16
- CADD 24.10
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Inborn genetic)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. (PMID 9886318)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)