T74M (p.Thr74Met) variant of F8 (Coagulation factor VIII)
T74M (p.Thr74Met) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F8-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T74M (p.Thr74Met) variant details
- p.Thr74Met
- rs782504603
- ClinGen CA10568622
- ClinVar RCV003399557
- 1000Genomes rs782504603
- Uncertain significance
- F8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.57
- CADD 17.60
- PolyPhen-2 0.16
- SIFT 0.13
- ClinVar: Uncertain significance (F8-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0083)
- Structural context available