H1938R (p.His1938Arg) variant of F8 (Coagulation factor VIII)
H1938R (p.His1938Arg) 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 not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H1938R (p.His1938Arg) variant details
- p.His1938Arg
- rs1603432981
- ClinGen CA414906847
- NCI-TCGA Cosmic COSV6426
- NCI-TCGA Cosmic COSV6427
- Likely pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.04
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)