S44R (p.Ser44Arg) variant of F13B (Coagulation factor XIII B chain)
S44R (p.Ser44Arg) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar 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 0.07 / 1. The record also includes population frequency data and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- ExAC rs752638957
- TOPMed rs752638957
- gnomAD rs752638957
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0718
- REVEL 0.06
- CADD 4.58
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available