S50I (p.Ser50Ile) variant of F13B (Coagulation factor XIII B chain)
S50I (p.Ser50Ile) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S50I (p.Ser50Ile) variant details
- p.Ser50Ile
- gnomAD rs1274967585
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.19
- CADD 14.00
- PolyPhen-2 0.68
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available