A23E (p.Ala23Glu) variant of F13A1 (Coagulation factor XIII A chain)
A23E (p.Ala23Glu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ExAC rs763103004
- TOPMed rs763103004
- gnomAD rs763103004
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -0.90
- CADD 0.27
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available