C12R (p.Cys12Arg) variant of F8 (Coagulation factor VIII)
C12R (p.Cys12Arg) 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 0.62 / 1. The record also includes population frequency data and structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- rs1557287605
- ClinGen CA414920673
- ClinVar RCV003404310
- gnomAD rs1557287605
- Uncertain significance
- F8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.74
- MetaLR 0.93
- MetaSVM 0.84
- CADD 22.60
- PolyPhen-2 0.52
- SIFT 0.02
- ClinVar: Uncertain significance (F8-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available