S44I (p.Ser44Ile) variant of F5 (Coagulation factor V)
S44I (p.Ser44Ile) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- gnomAD rs1438469781
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.41
- CADD 17.70
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available