D94E (p.Asp94Glu) variant of F13A1 (Coagulation factor XIII A chain)
D94E (p.Asp94Glu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. 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.
D94E (p.Asp94Glu) variant details
- p.Asp94Glu
- ExAC rs768303192
- TOPMed rs768303192
- gnomAD rs768303192
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -0.99
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available