S17R (p.Ser17Arg) variant of F5 (Coagulation factor V)
S17R (p.Ser17Arg) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- ExAC rs750456914
- gnomAD rs750456914
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available