S80A (p.Ser80Ala) variant of F5 (Coagulation factor V)
S80A (p.Ser80Ala) in F5 (Coagulation factor V) 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.
S80A (p.Ser80Ala) variant details
- p.Ser80Ala
- ExAC rs760150193
- gnomAD rs760150193
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.46
- CADD 19.50
- PolyPhen-2 0.84
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available