D59N (p.Asp59Asn) variant of F13A1 (Coagulation factor XIII A chain)
D59N (p.Asp59Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D59N (p.Asp59Asn) variant details
- p.Asp59Asn
- TOPMed rs914446893
- gnomAD rs914446893
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.39
- MetaLR 0.59
- MetaSVM 0.24
- CADD 23.20
- PolyPhen-2 0.54
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available