N60R (p.Asn60Arg) variant of F8 (Coagulation factor VIII)
N60R (p.Asn60Arg) in F8 (Coagulation factor VIII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N60R (p.Asn60Arg) variant details
- p.Asn60Arg
- gnomAD X-154882170-TTC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 1.60
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available
- Literature evidence available