G274R (p.Gly274Arg) variant of F13A1 (Coagulation factor XIII A chain)
G274R (p.Gly274Arg) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G274R (p.Gly274Arg) variant details
- p.Gly274Arg
- rs2480618478
- ClinGen CA362740178
- ClinVar RCV003890759
- Likely pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- MetaLR 0.90
- MetaSVM 1.00
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Likely pathogenic (in FA13AD)
- UniProt: Likely pathogenic (in FA13AD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available