V53M (p.Val53Met) variant of F8 (Coagulation factor VIII)
V53M (p.Val53Met) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- TOPMed rs1476526439
- gnomAD rs1476526439
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.52
- MetaLR 0.82
- MetaSVM 0.39
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available