V53L (p.Val53Leu) variant of F8 (Coagulation factor VIII)
V53L (p.Val53Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- rs1476526439
- ClinGen CA414920384
- ClinVar RCV003412132
- TOPMed rs1476526439
- Uncertain significance
- F8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.48
- MetaLR 0.82
- MetaSVM 0.34
- CADD 11.70
- PolyPhen-2 0.03
- SIFT 0.49
- ClinVar: Uncertain significance (F8-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available