E44G (p.Glu44Gly) variant of F13A1 (Coagulation factor XIII A chain)
E44G (p.Glu44Gly) in F13A1 (Coagulation factor XIII A chain) 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.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- TOPMed rs1388475195
- gnomAD rs1388475195
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.31
- MetaLR 0.06
- MetaSVM -1.03
- CADD 23.10
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available