E3G (p.Glu3Gly) variant of F13A1 (Coagulation factor XIII A chain)
E3G (p.Glu3Gly) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD rs1758723950
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available