G2102D (p.Gly2102Asp) variant of F8 (Coagulation factor VIII)
G2102D (p.Gly2102Asp) 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 structural context.
G2102D (p.Gly2102Asp) variant details
- p.Gly2102Asp
- rs2148583736
- ClinGen CA414900171
- ClinVar RCV001508072
- Ensembl rs2148583736
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- MutPred 0.82
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available