S20C (p.Ser20Cys) variant of F13A1 (Coagulation factor XIII A chain)
S20C (p.Ser20Cys) in F13A1 (Coagulation factor XIII A 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 0.54 / 1. The record also includes population frequency data and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- ExAC rs774246884
- TOPMed rs774246884
- gnomAD rs774246884
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.20
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available