K63E (p.Lys63Glu) variant of F5 (Coagulation factor V)
K63E (p.Lys63Glu) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- TOPMed rs1278612166
- gnomAD rs1278612166
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available