E44D (p.Glu44Asp) variant of F13A1 (Coagulation factor XIII A chain)
E44D (p.Glu44Asp) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- ESP rs148065753
- ExAC rs148065753
- TOPMed rs148065753
- gnomAD rs148065753
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.29
- MetaLR 0.01
- MetaSVM -1.00
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available