G563R (p.Gly563Arg) variant of F13A1 (Coagulation factor XIII A chain)
G563R (p.Gly563Arg) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G563R (p.Gly563Arg) variant details
- p.Gly563Arg
- rs121913069
- ClinGen CA126627
- ClinVar RCV000017993
- ClinVar RCV005887536
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.85
- MetaLR 0.86
- MetaSVM 0.89
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A… (PMID 9531593)