F54I (p.Phe54Ile) variant of F13A1 (Coagulation factor XIII A chain)
F54I (p.Phe54Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F54I (p.Phe54Ile) variant details
- p.Phe54Ile
- rs138690353
- ClinGen CA3624733
- ClinVar RCV000338721
- ClinVar RCV000957863
- Conflicting interpretations
- Inborn genetic diseases; not provided; Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.48
- MetaLR 0.31
- MetaSVM -0.40
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Factor XIII, A subunit, d)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- 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)