A126S (p.Ala126Ser) variant of F5 (Coagulation factor V)
A126S (p.Ala126Ser) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A126S (p.Ala126Ser) variant details
- p.Ala126Ser
- ExAC rs775439917
- gnomAD rs775439917
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available