R2326Q (p.Arg2326Gln) variant of F8 (Coagulation factor VIII)
R2326Q (p.Arg2326Gln) 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 not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R2326Q (p.Arg2326Gln) variant details
- p.Arg2326Gln
- rs137852360
- ClinGen CA255027
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10037
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- MetaLR 0.98
- MetaSVM 1.07
- CADD 23.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor IX deficiency disease; Hereditar)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and… (PMID 10338101)
- Cited in: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain… (PMID 10910913)