R91H (p.Arg91His) variant of F13A1 (Coagulation factor XIII A chain)
R91H (p.Arg91His) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R91H (p.Arg91His) variant details
- p.Arg91His
- rs769424362
- ExAC rs769424362
- TOPMed rs769424362
- gnomAD rs769424362
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.83
- MetaLR 0.45
- MetaSVM -0.05
- CADD 27.00
- PolyPhen-2 0.91
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available