R108C (p.Arg108Cys) variant of F13A1 (Coagulation factor XIII A chain)
R108C (p.Arg108Cys) 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 0.68 / 1. The record also includes population frequency data and structural context.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs751922706
- NCI-TCGA Cosmic COSV5355
- ExAC rs751922706
- TOPMed rs751922706
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.62
- MetaLR 0.67
- MetaSVM 0.36
- CADD 25.90
- PolyPhen-2 0.74
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available