Q1764R (p.Gln1764Arg) variant of F8 (Coagulation factor VIII)
Q1764R (p.Gln1764Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q1764R (p.Gln1764Arg) variant details
- p.Gln1764Arg
- rs374988541
- ClinGen CA10568012
- ClinVar RCV002249956
- ESP rs374988541
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.61
- MetaLR 0.90
- MetaSVM 0.56
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 8 defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00024)
- Structural context available