N60T (p.Asn60Thr) variant of F8 (Coagulation factor VIII)
N60T (p.Asn60Thr) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N60T (p.Asn60Thr) variant details
- p.Asn60Thr
- TOPMed rs2073636094
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- MetaLR 0.82
- MetaSVM 0.28
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available