I106T (p.Ile106Thr) variant of F13A1 (Coagulation factor XIII A chain)
I106T (p.Ile106Thr) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I106T (p.Ile106Thr) variant details
- p.Ile106Thr
- rs1306326542
- ClinGen CA362741983
- ClinVar RCV003361746
- gnomAD rs1306326542
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.65
- MetaLR 0.50
- MetaSVM -0.17
- CADD 23.50
- PolyPhen-2 0.39
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)