E60D (p.Glu60Asp) variant of F10 (Coagulation factor X)
E60D (p.Glu60Asp) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- gnomAD 13-113129561-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.74
- MetaLR 1.00
- MetaSVM 0.88
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available