S44I (p.Ser44Ile) variant of F13B (Coagulation factor XIII B chain)
S44I (p.Ser44Ile) in F13B (Coagulation factor XIII B 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- rs762573806
- ClinGen CA1308654
- ClinVar RCV002745058
- ExAC rs762573806
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.12
- CADD 19.30
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- 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)