E139Q (p.Glu139Gln) variant of F13A1 (Coagulation factor XIII A chain)
E139Q (p.Glu139Gln) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E139Q (p.Glu139Gln) variant details
- p.Glu139Gln
- TOPMed rs1439029722
- gnomAD rs1439029722
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.49
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available